Neurodegenerative Disorder Flashcards by Cy De Leon

Familial AD inheritance of ALS is associatied with mutation of what gene

C9orf72 gene

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OPA3 mutation results to

HSP + optic atrophy

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What is confirmatory in diagnosing HD

DNA blood sample with 39 CAG repeats

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How many CAG repeats will manifest as mild form of chorea

35-39

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What suppress the movement in Huntington Disease

Haloperidol

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Tetrad of parkinson

Bradykinesia
Resting Tremor
Postural instability
Rigidity

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vertigo is the prominent feature of this EA

EA type 2

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HSP + Macular degeneration

Kjellum Syndrome

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What type of atrophy observed in SMA1

group atrophy

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Pathologic findings of Dentatorubral degeneration

Cerebellar atrophy and posterior column and spinocerebellar tract (similar with friedrich buy severe of dentate)

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MRI findings of behavioral variant

atrophy of frontal lobe

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Pathology of Lobar atrophies

60% no characteristic findings

20% Pick bodies

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Rosenver Chutorian Disease

Optic atrophy with polyneuropathy

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Neurologic manifestation of posterior cortical atrophy

prosopognosia
Impaired depth perception
Achromatopsia
Dyslexia

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What is the genetic defect in Kennedy Syndrome

CAG expansion that code for androgen receptor on the short arm of X-Chromosome

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What is the gene involved in Dystonua Musculurum Deformans

DYT1 in Chr 9q

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What genes are involved in late onset AD

ApoE
UBQLN1
TREM2

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This gene is related to cone-rod dystrophy

ABCA4

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What is most frequent pathologic diagnosis in established globally demented patient next to AD

Lewy Body Dementia

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a.k.a. Jakob Disease

Corticostriatospinal degeneration

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What medication given for psychosis aggression and psychosis

Olanzapine, Quietiapine and Risperidone

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Type 2 EA respond to

Acetazolamide

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Exaggerated jaw jerk, fasciculation of tongue, pseudobulbar signs, and dysarthric speech

Progressive Bulbar Palsy

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Aggregation of this is a toxic model for AD

AB42

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What is the most striking in behavioral variant lobar atrophy

intraneuronal deposition of tau in frontotemporal lobe and substantia nigra

Mechanism of action of Rasagiline

MAO-B inhibitor

Pureform Cerebellar ataxia is also known as

Cortical or Holmes Type

HSP + dementia involved mutation of this gene

ALDH3A2

2 variants of lobar atrophy

a. Behavioral | b. Primary progressive aphasia

Intermediate SMA I and SMA III but designated as SMA III

Dubowitz Syndrome

This triple the risk of sporadic AD

APOe4

Mutation of this gene is involved in MSA

COQ2

What is the mechanism of action of Rilozole

Antiglutamate agent

Before concluding ALS the EMG study should be

denervation must be available in 3 limbs

Involve lower motor nuclei of the lower brainstem

Progressive bulbar palsy

Haplotype gene involved in AD

ApoE

What's the reason for orthostatic hypotension in Lewy Body dementia

involvement of the intermediolateral horn of the the SC

What are neurotransmitter abnormalities in AD

Reduced choline ACHase and ACH Glutamate Glucose

Seizure in AD

myoclonus and choreoathetosis

The Criteria of NINCD and ADRDA have accuracy rate in diagnosing AD

85%

The age of onset in Dentatopallidoluysian is inversely proportional to

size of gene expansion

Other name for Spinal Muscular Atrophy

Wernig-Hoffman Disease

HSP + ataxia

Fergusson Critchely Syndrome

All SMA mapped to chromosome __________ located at the gene _________

5q11.2-13.3 /. Survival motor neuron

Triad of ALS

Atrophy with fasciculation Spascticity Generalized hyperreflexia

Facial weakness, dysarthria, dysphagia, atrophy of tongue

Bulbopontine paralysis

MRI findings of Fragile X

T2 hyperintensity in cerebellar peduncle

2 types of Spinal Muscular Atrophy

1. Infantile Spinal Muscle Atrophy SMA I | 2. SMA II and SMA III

Hearing loss + sensory radiculopathy

Denny Brown

Characterized by hypotonia, decrease volume of muscle and assume a frog position

SMA1

It interact with Y-secretase enzyme that produces AB42

Presenellin 1 & 2

What are the placement points of DBS

GPi, VLT and subthalamic nucleus

Characterized by behavioral changes and personality changes. Insight is always impaired

Behavioral variant

Pathologic findings in idiopathic PD

Lewy body nuclei containing eosinophil

Norrie Disease

retinal malformation, MR and Hearing loss

What are the protective agents for parkinsons disease

Smoking and coffee

What is atrophied in Corticobasal degeneration

Frontal motor and anterior parietal

Characteristic feature is spastic paraparesis and spatic bladder

Primary lateral sclerosis

What type of defect of GAA is seen in Friedrich ataxia

Missense

What study stated that poorer linguistic capability in early life correspond to development of AD

Nun Study

Type of atrophy in Chronic Childhood and Juvenile Proximal SMA

Neural Atrophy

Age of onset of Primary lateral sclerosis

5th-6th decade of life

The pathologic findings consistent of this conditions are loss of nerve cells in AHC, corticospinal tract degeneration and loss of BETZ cells in frontal lobe

ALS

Chromosome involve in EA-Type 2

Chr19

What correlates with increased deposition of AB in the brain

Sporadic form of behavioral variant lobar atrophy has a mutation of this gene

Chr. 17

AR hearing loss and ataxia

1. Lichtenstein-Knorr Syndrome - 2. Richards-Rundle Syndrome - hypogonadism and MR 3. Jeune-Tommasi Syndrome - MR

This is secondary to defect of maternal mitcohondrial DNA where daughters are carrier where it begins as eye pain then progress to blindness of central vision initially then periphery

Leber Hereditary Atrophy

2 Category of Acanthocytosis with chorea

1. Defect in RBC lipid membrane | 2. Lacks lipid abnormality

Early sign of polyglucosan body disease

Bladder dysfunction

what generates the full length fully functional SMN

SMN1

This is a prototype of all form of progressive ataxia

Friedrich Ataxia

Preserve motor neuron in the spinal cord with degeneration of corticospinal tract

Primary lateral sclerosis

Components of Lewy Body (2)

Ubiquitin | Synuclein

What is the mechanism of disease in Progressive Muscular Atrophy

Immune-mediated motor neuropathy that occurs with or withour motor block

Loss of DTR in Friedrich ataxia is secondary to

loss of cells in sensory ganglia

Genes involved in PD where inheritance is AR

Park 2 and Park 6

Most disabling aspect of the disease in AD

Executive Function

Retinal disease with photosenstivity dermatitis

Cockayne Syndrome

Strumpell-Lorraine Disese is divided into 2 age group:

a. Beginning before 35 | b. Late onset

This gene bind to surface antigen on red cell

KY gene

How is PSP inherited

Autosomal dominant

Found in the pyramdal layer of hippocampus and secondary to defect in phagocytosis of degraded protien

Granulovascular Degeneration

MRI findings of Polyglucosan Bodies

Whitematter changes with degeneration of corticospinal tract

Criteria in Diagnosing AD (NINCD) and (ADRDA)

1. Dementia defined by clinical examination 2. Patients 40 years and older 3. Deficit in 2 or more areas of cognition 4. Absence in disturbance of consciousness 5. Exclusion of other brain disease

What is the initial symptoms of Retinitis pigmentosa

Nyctalopia

Pattern of inheritance of Kennedy Syndrome

X-Linked

This is a variant of HD where parkinsonian and rigidity is its main manifestation, where inability to protruded tongue is characteristic

Westphal/Rigid Variant

Characterized by progressive cerebellar ataxia with myoclonus

Dentatorubral degeneration

Age of onset of Stagardt Disease

6-20 years old

Essential type of tremor in PD is characterized by

7-8Hz/sec slightly irregular action tremor of the outsretched hand

What is the pathognomonic findings of Stegardt Disease

Dark choroid pattern in angiography

What is the drug of choice in the management of tremor

Trihexyphenidyl Benztropine Ethoproprazine

What is COQ2 gene

involves for encoding for a protein involving in synthesis of co-enzyme Q2

This is an AR where consanguinity plays an important role

Retinitis pigmentosa

Discrete cytoskeletal CHON that promote assembly of microtubules

Tau

Denervation of these muscles suggest ALS

genoglossus and facial muscle

Mickey Mouse sign is seen in what condition

Progressive Supranuclear Palsy

In HD, the presence of movement disorder alone without cognitive abnormalities is associated with

Fewer CAG repeats

This condition is characterized by behavioral disturbance precede memory difficulties

Agyrophilic Grain Disease

What is the affected cortical region in agyrophilic grain disease

Medialtemporal lobe

These are group of progressive degenerating disorders of motor neuron in cortex, spinal, BS

Motor Neuron Disease

X-Linked Aspect of Hereditary Spastic Paraplegia

LICAM and PLP2

This is a critical to neuronal toxicity of amyloid

Ratio of AB42 to AB40

This condition is characterized by trinucleotide repeat and breakge of X-chromosome

Fragile X Tremor Permutation

The function of Chr14q is involve in

synthesis of tetrahydrobiopterin

Drug of choice for psychiatric symptoms

Atypical antipsychotics (clozapine)

This condition is characterized by gradual developmentr of spastic weakness with difficulty walking , usually toe-walking and arching of foot

Hereditary Spastic Paraplegia

What is the pathologic feature of neuroserpinopathy

Large eosinophilic on PAS intraneuronal aggregates of neuroserpins

Amyotrophy and hypereflexia

ALS

What is the drug of choice for ALS

Rilozole

What lobes are affected in lobar atrophy

Frontal and temporal

Infrequent blinking is defined as

5-10/min

This condition where the patient is capable of brief remarkably effective movement

Kinesia Paradoxica

CT/MRI findings of CBD

asymmetrical cerebral/pontine atrophy

What is the side effect of Pergolide

Carduac valvular effect

Age of onset of dentatorubral degeneration

7-17 years old

Who are candidates for DBS

a. failure medical management | b. Dyskinesia to L-Dopa

What genes are involved in early AD

APP PS1 PS2

SLC52A3 gene is involved in this condition

Progressive Bulbar Palsy of Childhood

What is the initial symptoms of Parkinson Disease

Tremor 70%

Aggregates of protein amyloid surrounded by degenerating nerve

Senile Plaques

What is the characteristic syndrome of Lewy Body Dementia

Progressive dementia with late onset parkinsonism

Levodopa in HD is ideally for

Juvenile form (Rigid form)

What determine the age of onset of Huntington disease

Number of CAG

Pathologic findings of Machado-Joseph-Azorean Diease

Degeneration of AHC and spinocerebellar tracts | Loss of AHC and neurons in pons and oculomotor nuclei

What is the chromosome involved in Benign inherited chorea

chr 14q

What determines the severity and time of onset of the disease in SMA

SMN2

characterized by distal limb weakness, fasciculation and cadaveric hands

ALS

What layer of entorhinal cortex is severely affected in AD

Layer 2

This shares the non-fluent aphasia in which meaning of words is retained

Logogenic Aphasia

Participate in synaptic plasticity

Tau

Death in HD occurs at

after 18-20 years

Amnesic components of dementia are due to neuronal loss of the following regions:

1. CA1 and CA2 2. Amygdala 3. Dentate gyrus 4. Temporal cortex

Mutation of this gene is involved in familial motor neuron

SOD2

How many of PD patient develop dementia

65%

What protein interacts with PS1 and PS2 that participates with proteosomal degradation

UBQLN1

Repeated cerebral trauma leading to chronic traumatic encephalopathy

Dementia pugilistica

What type of memory fails in AD

retentive type of memory

The only muscle spared in SMA1

EOM

AD and X-Linked type mutation is associated with

UBA1

A.K.A Fazio Londe Syndrome

Progressive Bulbar Palsy of Childhood

ALS with FTD is associated with mutation of this gene

TARDBP and FUS

Age of onset of Chronic Childhood and Juvenile Proximal SMA

before 2 years old (3-18)

Characterized by extreme rigidity , corticospinal signs with no dementia and ocular problems

Corticostriatospinal degeneration

Complication of DBS

1. ICH | 2. Depression and suicides

How many percent reduction of brain weight in AD

20%

Gene that is involved in idiopathic PD

Park 3

What drug causes irreversible parkinsonsism and has a selective destruction of cells in SN

Methyphenyltetrahydropyridine (MPTP)

What gene is involved if chorea begins late life

HDL2

Gene mutation of HSP with macular degeneration

SPG 11 and SPG 15

Hyperphosphorylated form of microtubular protein appear in helical filaments

Neurofibrillary tangle

In order for carbon dioxide retention this should be instituted

BIPAP

What chromosome is affected in EA-Type 1

Chr. 12

EMG findings of Motor neuron disease

Widespread fibrillation and fasciculation | Enlarged motor neurons

This drug reduces the motor fluctuation of L-Dopa

Pramipexole

Friedrich ataxia has a mutation of what gene

chr 9q13-2

Cerebellar spongiform white matter changes and with intra and extranuclear inclusion

Fragile X

This gene defect has unstable CAG trinucleotide repeat

Dentatorubropallidoluysian Atrophy

What is the most common mutation of Retinitis Pigmentosa

RHO in AR | RPGR & RP2 in X-Linked

Composed if glucose polygon and demonstrate in sural nerve biopsy

polyglucosan bodies

Aside from Bromocriptine, give D2 agonist

Lisuride

MRI findings in ALS

Atrophy of motor cortices and wallerian degeenratoon of motor tract

Focal lesion that contribute to cognitive syndrome resulting from arteriosclerosis and multiple infarction

Vascular dementia

Age of onset of ALS

5 groups of Cochleovestibular atrophies

``` progressive nerve deafness low-frequency mid-frequency sex-linked early onset neural deafness ```

Loss of motor neuron in the following areas are characteristics of Progressive Bulbar Palsy of Childhood

Hypoglossal Ambiguus Facial Trigeminal

This condition is characterized by early difficulty naming people words followed by verbal perseveration

Semantic Dementia

Heartblock and ventricular block are EEG findings of

Friedrich ataxia

What is the early signs of striatal degeneration?

loss of dendrites of small neurons

Multiple System Atrophy involves neuronal degeneration of the followiung area

SN Striatum ANS Cerebellum

Lack of vital endurance of the affected neurons

Abiotrophy

How many percent of ALS has familial AD inheritance

40%

SPECT and PET scan findings of AD

reduced activity in parietal association region and medial temporal lobes

Symptomatology of Friedrich Ataxia

Hammertoes Myopathy DM Ataxia

What structure is spared in PSP

Cerebellar cortex

Senataxin gene is associated with what variant of ALS

childhood onset (AR)

The pathologic findings of Primary Lateral Sclerosis

Reduced Betz cells in frontal, premotor and cortex

Bilaterally symmetrical slowly progressive macular degeneration

Stagardt Disease

Retinal disease with hypogonadism and obesity

Alstrom disease

This has a protective property or hiding the mental decline

cognitive reserve

Treatment of PSP

Zolpidem

Gene implicated in acanthocytosis

Chr. 9q

This is an autosomal dominant disorder where there is gradual mental deterioration and stain reaction for amyloid

Familial Dementia with Spastic Paraparesis

this gene can partially compensate for loss of SMN1

SMN2

Cardinal signs of Dentatorubropallidoluysian Atrophy

Cerebellar ataxia | choreathetosis and dystonia

Where does striatal degeneration initially occurs

medial part of caudate sparing nucleus accumbens

Congenital pain asymbolia

Osuntokun Syndrome

Funduscopic triad of Retinitis Pigmentosa

1. Bone corpuscles 2. Attenuated Vessels 3. Pallor of the optic disc

3 main group of progressive ataxia

a. Spinocerebellar ataxia b. Pure form ataxia c. Complicated cerebellar ataxia

GAA trinucleotide repeat code for ___________ and involves in ________________

Frataxin | Friedrich ataxia

What is the differential diagnosis if chorea occurs in early adult life?

Syndenham chorea SLE with APAS Cocaine use

What is the mechanism of formation of neurofibrillary tangle and amyloid plaques in head trauma

Reparative process

This condition is characterized by progressive ataxia, EPS, bulbar signs, and saccade impairment

Machado-Joseph-Azorean Disease (SCA)

What is a treatable cause of Friedrich Ataxia

Inherited deficiency of Vit E

What lobe is affected if there is a problem in executive function

Frontal lobe

EMG finding in PD

(-) burst activity

This condition is characterize by typical form of parkinsonian and episodic dementia

Lewy Body Dementia

Mechanism of action of Entacapone

COMT inhibitor where it prolongs the half life of L-dopa by preventing its metabolism

Most common mutation in AR Hereditary Spastic Paraplegia

SPG7

What is the cardinal feature of dystonia musculurm deformans

simultaneous contraction of both agonist and antagonist at a joint

What degenerates in Friedrich Ataxia that causes ataxia

Superior vermis Dentatorubral pathway Spinocerebellar pathway

Eye impairment in PSP

``` Impaired voluntary saccades Hypometric saccades Delayed pursuit Cogwheel fixation Small pupils Loss of Bells Phenomenon ```

What correlates with severity of dementia

NFT

CT and MRI findings in AD

enlarged lateral and 3rd ventricle | medial temporal lobe atrophy

Non-motor parkinson Symptoms

``` paresthesia Excess salivation Excessive sweating Autonomic disturbance Orthostatic hypotension ```

Hearing loss and nephritis

Lemieux Neemeh Syndrome

Usual age of onset of Huntington Disease

4th-5th decade

SMN2 generates what type of SMN

truncated and partial functional SMN

Optic atrophy with muscle wasting

Sylvester disease

This condition is characterized by difficulty in balance, abrupt falling, ocular disturbance and slurred speech

Progressive Supranuclear Palsy

TDP-43 is associated with what disorders (2)

Frontotemporal lobe dementia | Motor neuron disease

Age of onset of Torsion Dystonia

6-14 years old

2 types of paroxysmal Ataxia

a. Episodic ataxia Type 2 | b. Episodic ataxia Type 1

What is the mechanism of action of Memantine

NMDA glutaminergic antagonist

Clinical syndrome of guamanian Parkinson Dementia ALS

progressive dementia parkinsonism with combined UMNL and LMNL

What differentiate EA-Type 1 from EA-Type 2

absence of vertigo

Cortices that undergo atrophy in AD

frontal, temporal and parietal

Extensive forward flexion of the spine and correspondingly severe stooping

Camptocornia

This involve in cellular protein sorting and trafficking

Chorein

Donepezil improve _____ points in 70 points AD Assessment Scale

2-3

HSP + Dementia

AR syndrome of Sjogren-Larsson

Pure form of visuospatial disorientation

Posterior cortical atrophy

How long does Donepezil takes its effect

6-12 months

Mutation of TARDBP and FUS is how many percent of Familial and sporadic

5% and 2%

static tremor with athetosis of limbs

HSP + EPS

Describe the memory loss in AD

recent memory is lost | remote memory is preserve

This involves proximal limbs and progresses to shoulder with fasciculation and decrease DTR

Chronic Childhood and Juvenile Proximal SMA

Characterized by stridor, facial diplegia and paralysis oflingual, pharyngeal and EOM

Progressive Bulbar Palsy of Childhood

Gradual development of chorea in middle life with associated facial and orofacial feature

Mutation of KY gene

Gene involved in Strumpell-Lorraine Disease

SAX1

Parkinson disease age of onset

45-70 peaks at 60s

HSP + optic atrophy

Behr Syndrome

Spastic weakness, hypereflexia with LMNL

Progressive Lateral sclerosis

The rapid deterioration of intellectual function is characterized by:

Subcortical dementia

Defined Lobar atrophy

selective atrophy involving both white and gray matter with gliosis of the superficial layers of cortex usually asymmetrical and has different histopathological changes

Pathologic findings showed hypertrophic polyneuropathy

HSP + polyneuropathy

Why give levodopa in lowest dose

Decrease receptivity to dopa of striatal target neurons becomes excessive

Pathologic abnormalities in Dystonia Musculurm Deformans

perinuclear lesion in VPAH and elecation of B-hydroxylase(in AD)

Twitching of head to one side while walking

torticollis

What lipid is decreased in acanthocytosis

Stearic acid

Incidence of ALS

0.5-1.76/100,000

Triad of Huntington Chorea

Dominant inheritance Choreoathetosis Dementia

What is the ratio of conversion of L-Dopa to peripheral tissue

1:10 or 1:4

What is the variant of hemiplegia in ALS

Mills Variant

How many percent of ALS is associated with frontotemporal lobe dementia

What lobe is assessed in Weschler Adult Intelligence Scale

Temporoparietal cortices

What is the molecular defect in Huntington Disease

Expansion of polyglutamine region of huntingtin induce glutamate-mediated excitotoxicity

General Pathologic Feature of Neurodegenerative Diseases (4)

1. Limited to motor neuron of cortex, BS and SC 2. Protein Aggregation 3. Triplication of certain gene 4. Contiguous spread of CHON aggregation

Intrathecal baclofen is used in this condition

Torsion Dystonia

Drugs use to reduced dystonia in PSP

Benztropine or Trihexylphenidyl

This is failure to stop clapping after they are ask to do only 3

applause sign

Most effective agent for treatment of PD

L-Dopa

White matter changes in cerebral hemisphere with retinal vasculopathy

Susac Syndrome

Gene that is associated with Dystonia parkinsonism muscle dystrophy

Park 14

What is a serpines

protease inhibitors

Optic nerve exam of Leber Hereditary Optic atrophy

Degeneration from papillae to LGB

This is characterized by arrhythmic, involuntary rhythm repetitive twitching that respond to valproic acid and clonazepam

Hereditary Polymyoclonus

Pathologic abnormality in Huntington disease

Atrophy of head of caudate alters the configuration of the anterior horn where the inferolateral tend do not show bulge of head

Chorein is located in what gene

Chr. 9q

Diagnostic Criteria of Lewy Body (4)

1. Parkinsonian Syndrome 2. Fluctuation in behavior and cognition 3. Reversal hallucination 4. Neuroleptic sensitivity (REM sleep)

What is the earliest pathological changes in PD

Earliest change in glossopharyngeal and anterior olfactory nucleus

Differential Diagnosis of SMA1

All disease that presents with floppy infants Congenital myopathies Neonatal MG Prader Willi

Presence of cognitive difficulties in one or all sphere that are not severe enough to interfere with daily living

Mild cognitive impairment

How many months do Rilozole add for ALS

3 months

Age of onset (alzheimer's disease)

60 years and older

Mechanism of action of Ropinirole

Non-ergot derivatives that causes stimulation on D2 receptor

Extrapyramidal signs, orthostatic hypotension and ataxia

Shy Dagger Syndrome

EEG findings of AD

mild diffuse slowing

The average years of onset of acanthocytosis

32 years old

This is different form of Huntington Disease where onset is before 5 years old without metal deterioration

Benign inherited chorea

2nd most common AR death

SMA1

SOD1 mutation is a characteristic feature of this conditon

Progressive muscular atrophy

Behavioral variant with concomitant motor neuron manifestation is:

Western pacific syndrome

This condition is characterized by loos of ability to understand and use visual information

Posterior cortical atrophy

This condition is characterized by spasticity, chorea, dementia and sensory polyneuropathy

Adult Polyglucosan Body Disease

MRI findings of Multiple System Atrophy

Hot Cross Bun | Reflects to atrophy of pons at pontocerebellar fiber in T2 signal intensity

What is the mechanism of action of Amantadine

Antagonist of NMDA or release of stored NMDA; reduces L-dopa induced dyskinesia

Placement of Brain Stimulation in Dystonia Musculurum Deformans

VLN and pallidum ansa ventricularis

Where do NFT and neuritic plaques found?

association cortices

This condition is characterized by extensive loss of neurons in the SNPc and pallidal atrophy

Multiple System Atrophy

Tun-Bridge Paley Syndrome

Optic atrophy with juvenile DM

Genes that has AD inheritnce

Park 1/4, Park 3, Park 8 and NR4A2

What precedes the formation of better and well-defined NFT and plaques

AB42

This is a product of inadequate function of gene that is deposited in neuron, and plays a role in severity of expression of AD

TDP-43

This result to abnormal composition of covalently bound FA in RBC

Acanthocytosis

3 Types of Primary Progressive Aphasia

1. Progressive non-fluent aphasia 2. Semantic Dementia 3. Logogenic Aphasia

Presence of this paraprotein is associated with AB against ___________ in progressive muscular atrophy

GM1 ganglioside

This condition is characterized by proximal extrapyramidal rigidity combined with signs of corticospinal disease

Corticobasal Degeneration

2 characteristic of degenerative disease

1. affects specific part or functional system of NS | 2. They begin insidiously, after a period of normal function and gradually progressive in nature

Early histologic findings of ALS

Swelling of the proximal axon

hearing loss, bone cyst osteoporosis, skin atrophy and eye defect

Flynn Aird Syndrome

Grading of Disease (Huntington)

1. Early - no striatal lesion; clinical manifestation are based on biochemical or infrastructural changes 2. Moderately advance 3. Far Advance stage - (+) striatal degeneration

DIstal muscular atrophy with prominent bulbar signs and elevated CK levels

Kennedy Syndrome

What is the characteristic Gait of PSP

retropulsion "toppling phenomenon"

Where is the lesion if there is visuospatial disorientation

parietooccipital impairment

In Leber Hereditary Atrophy, the 2nd eye will be blind in:

within a year

Dystonia that is responsive to L-DOpa

Segawa Syndrome

What is the only affected in late pathobiology of PD

SNPc

Associated with mutation of gene SPG2

HSP + distal muscle wasting

What are the inclusion bodies involved in MSA

Glial cytoplasmic inclusion

Flourrescein angiography of Leber Hereditary Optic Atrophy

Shunting in the abnormal vascular bed with reduced filling of capillaries of the papillomacular bundle

What regions of the brain has accelerated atrophy in AD (2)

1. Hippocampus | 2. Temporal lobes

What is the inclusion body of Guamanian PD ALS

NFT

What is the function of SMN gene

participate in forming protein-RNA complex that are essential for gene splicing

Ergot derivative drug causes direct stimulation on D2 receptor

Bromocriptine

What is the PET-SCAN findings in Lewy Body

Reduced activity of posterior parietal region

What type of neuron is affected in AD

large pyramidal neurons

AD inheritence genes involved in AD

APP PS1 and PS2

The dominant symptoms relate to weakness and laxity of muscle innervated by motor nuclei of lower brainstem

Progressive Bulbar Palsy

What is the result of DBS

enhance effect of L-DOPa and reduction of drug induced dyskinesia

What ameliorates cerebellar lesions in Friedrich ataxia

5-hydroxytryptophan

What is the associated gene involved in hereditary polymyoclonus

SGCE

Tapetoretinal degeneration a.k.a

Waardenburg

This pathologic feature is compatible with Holmes Ataxua

vermian atrophy and adjacent cerebellar area

Patient with ALS will die in ______ or ____% in 6 years

3 years / 90%

What is diagnostic in the presence of clinical circumstances in AD

Hippocampal atrophy

Where is the placement of DBS if you want to improve dystonia

Pallidal stimulation

What channel is affected in Chr. 12 in EA-Type 1

K Channel

Nyssen van Bogaert Syndrome

Optic atrophy with quadriparesis and developmental delay

CSF findings in AD

NORMAL

hand tremor, demenyia and parksinson syndrome is the cardinal symptoms

Fragile X

What is the rule if there is mutation of DYT1 gene

manifest early in life and begins in one limb

What is the early abnormal movements in Huntington Disease

Difficulty performing hand movements

Chromosome involved in Dopa Responsive Dystonia

Chr. 14q

What is the trinucleotide repeats involved in Fragile X

50-200 CGG

This rigidity is elicited by having the opposite llimb do motor task requiring concentration

Froments sign

This condition is characterized by adult onset dementia with chorea associated with elevated propionic acid

Dentatorubropallidoluysian atrophy

MR, narrowing of retinal vessel and white vascularized retinal mass

Small disease

AD hearing loss and ataxia

1. Telfer-Sugar Jaeger Syndrome - | 2. Rosenberg Bergstrom Syndrome - hyperuricemia

What is the pathologic findings of corticobasal degeneration

neuronal achromasia - balloon and chromatolytic neurons with eccentric nuclei

Patient with progressive bulbar palsy dies in

Aspiration Pneumonia

MRI finding of Machado-Joseph-Azorean Disease

Reduced width of the superior and middle cerebellar peduncle

Nerve conduction study in ALS

usually normal, if decreased suggestive of entrapment neuropathy

The core feature of Parkinson Disease

Postural Instability

What results to cleavage of B and Y of APP

40 amino acid product

Retinal disease with polyneuropathy

Refsum disease

Gene in Huntington Disease is located at ____ and involves triplication of ______

chr. 4 CAG

This is an adult onset dementia with fulminant evolution of encephalopathy with seizure

Neurosepinopathy

This is a pure lower motor neuron disease occurs in younger patient with wasting of intrinsic muscle of hand with diminished DTR

Progressive muscular atrophy

3 inclusion bodies in AD

1. NFT 2. Neuritic plaques 3. Granulovascular Degeneration