Neurodegenerative Disorder Flashcards
Familial AD inheritance of ALS is associatied with mutation of what gene
C9orf72 gene
OPA3 mutation results to
HSP + optic atrophy
What is confirmatory in diagnosing HD
DNA blood sample with 39 CAG repeats
How many CAG repeats will manifest as mild form of chorea
35-39
What suppress the movement in Huntington Disease
Haloperidol
Tetrad of parkinson
Bradykinesia
Resting Tremor
Postural instability
Rigidity
vertigo is the prominent feature of this EA
EA type 2
HSP + Macular degeneration
Kjellum Syndrome
What type of atrophy observed in SMA1
group atrophy
Pathologic findings of Dentatorubral degeneration
Cerebellar atrophy and posterior column and spinocerebellar tract (similar with friedrich buy severe of dentate)
MRI findings of behavioral variant
atrophy of frontal lobe
Pathology of Lobar atrophies
60% no characteristic findings
20% Pick bodies
Rosenver Chutorian Disease
Optic atrophy with polyneuropathy
Neurologic manifestation of posterior cortical atrophy
prosopognosia
Impaired depth perception
Achromatopsia
Dyslexia
What is the genetic defect in Kennedy Syndrome
CAG expansion that code for androgen receptor on the short arm of X-Chromosome
What is the gene involved in Dystonua Musculurum Deformans
DYT1 in Chr 9q
What genes are involved in late onset AD
ApoE
UBQLN1
TREM2
This gene is related to cone-rod dystrophy
ABCA4
What is most frequent pathologic diagnosis in established globally demented patient next to AD
Lewy Body Dementia
a.k.a. Jakob Disease
Corticostriatospinal degeneration
What medication given for psychosis aggression and psychosis
Olanzapine, Quietiapine and Risperidone
Type 2 EA respond to
Acetazolamide
Exaggerated jaw jerk, fasciculation of tongue, pseudobulbar signs, and dysarthric speech
Progressive Bulbar Palsy
Aggregation of this is a toxic model for AD
AB42
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
- 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
E4
Sporadic form of behavioral variant lobar atrophy has a mutation of this gene
Chr. 17
AR hearing loss and ataxia
- Lichtenstein-Knorr Syndrome -
- Richards-Rundle Syndrome - hypogonadism and MR
- 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
- 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)
- Dementia defined by clinical examination
- Patients 40 years and older
- Deficit in 2 or more areas of cognition
- Absence in disturbance of consciousness
- 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:
- CA1 and CA2
- Amygdala
- Dentate gyrus
- 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
- 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
45
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
- Bone corpuscles
- Attenuated Vessels
- 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
5%
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)
- Limited to motor neuron of cortex, BS and SC
- Protein Aggregation
- Triplication of certain gene
- 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)
- Parkinsonian Syndrome
- Fluctuation in behavior and cognition
- Reversal hallucination
- 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
- Progressive non-fluent aphasia
- Semantic Dementia
- 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
- 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)
- Early - no striatal lesion; clinical manifestation are based on biochemical or infrastructural changes
- Moderately advance
- 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)
- 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
- 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
- NFT
- Neuritic plaques
- Granulovascular Degeneration
