Movement Disorders Flashcards
Sudden, rapid, recurrent, non-rhythmic, stereotyped movements.
At least one motor and one phonic tic.
Onset before age 18 and persists >1 year.
Pathophysiology: Dopaminergic hyperstimulation of the Ventral Striatum & Limbic System.
Presentation: Coprolalia - Involuntary obscene speech.
Tourette’s Syndrome
Treatment of Tourette’s Syndrome?
Antidopaminergic Agents: Haloperidol, Pimozide
Atypical Antipsychotics: Fluphenazine
Clonidine, Guanfacine, Tetrabenazine
Copper-transporting P-type ATPasae (ATP7B) on chromosome 13.
Tremor: High amplitude proximal wing-beating
Characteristic grin with drooling
Wilson’s Disease
Double Panda Sign
Increased T2 signal in the caudate and putamen + midbrain, thalamus
Wilson’s Disease
Trinucleotide repeat CAG on chromosome 4
Pathophysiology: Neuronal degeneration in the striatum, substantia nigra, globus pallidus
MRI Brain: Caudate, Putamen atrophy
Huntington Disease
Motor Impersistence: Inability to sustain tongue protrusion
Impaired saccades and pursuits
Insuppressible head movements during eye movements
Huntington’s Diseae
Involuntary, rapid, abrupt, irregular movements that flow from one body part to another.
May result in dance-like gait
Chorea
Autoimmune disorder manifesting with chorea, bilateral and asymmetric.
Result of Group A Streptococcus infection..
+Antistreptolysin Antibodies
+Antibasal Ganglia Antibodies
Syndenham’s Chorea
Neuroacanthocytosis
Mixed movement disorder (dystonia + chorea).
Labs: Acanthocytes (spiculated RBCs) on wet mount blood smear.
Hallmark: Self-mutilating behavior (Compulsive head banging, biting tongue). Smacking movements of the mouth. Feeding Dystonia (food propelled out of the mouth by the tongue).
Classifications:
1. Core Syndromes: McLeod Syndrome, Pantothenate-Kinase-Associated Degeneration (PKAN)
2. with Lipoprotein Disorders: Hemolysis, Myopathy, Cardiomyopathy, Areflexia, Chorea, elevated Cr Phosphokinase, Liver disease
Subtypes of Neuroacanthytosis
Chorea-Acanthocytosis
Mcleod’s Syndrome
Abetalipoproteinemia
Brain Iron Accumulation Syndromes
Autosomal Recessive Disorder resulting from mutations in the VPS13A Gene that encodes Chorein Protein.
Presentation: Orolingual dystonias (Tongue Protrusion Dystonia), Self-mutilating behavior
Chorea-Acanthocytosis
Neurodegenerative Autosomal Dominant resulting from expansion of trinucleotide repeat CAG on chromosome 12.
Common in people of Asia descend.
Clinical Features: Myoclonus, Choreoathetosis, Epilepsy, Dystonia, Tremor, Parkinsonism, Cognitive dysfunction
Dentatorubral-Pallidoluysian Atrophy
Hyperkinetic movement disorder characterized by forceful, flinging, high-amplitude choreiform movements
Ballism
Hemiballism can occur as a result of injury to…
Contralateral Subthalamic Nucleus
Treatment for Tardive Dyskinesias
Clonazepam, Tetrabenazine
Common in people with Japanese ancestry
Trinucleotide CAG repeat to Chromosome 13, producing Protein Atrophin-1
Presentation: Progressive Myoclonus Epilepsy, Ataxia, Choreoathetosis, Dementia
Path: Degeneration of the Dentate Nucleus, Red Nucleus, Globus Pallidus, STN
Dentatorubropallidoluysian Atrophy (DRPLA)
Subtype of Neurodegeneration with Brain Iron Accumulation (NBIA Type 1)
Due to mutation of Pantothenate Kinase Gene (PANK2) in chromosome 20.
Path: Iron deposition and high concentration of Lipofuscin & Neuromelanin in the Substantia Nigra pars Reticulata & GPi.
Presentation: Progressive personality changes, Cognitive decline, Dysarthria, Motor difficulties, Spasticity, Choreoathetosis tremor, Retinitis Pigmentosa,
MRI: Decreased T2 signal in GP & Substantia Nigra (Eye of the Tiger)
Pantothenate Kinase-Associated Neurodegeneration (PKAN)
Autosomal Dominant
Mutation in the Torsin A Gene - DYT1 Dystonia
Common in Ashkenazi Jewish descent
Presentation: Onset in childhood with action-induced limb dystonia -> Generalization
T/M: Anticholinergics, BZDs, DBS in GPi
Primary Generalized Dystonia
Oppenheim Dystonia
Dystonia Musculorum Deformans
Mutation in the Sarcoglycan Protein
Myoclonus-Dystonia Syndrome
DYT11
X-linked
Males of Filipino descent
Lubag Disease
DYT3 Dystonia
THAP-1 Mutation
Adult-Onset Craniocervical Dystonia with Laryngeal involvement
DYT6
Most common hereditary form of dopa-responsive dystonia
Autosomal dominant - Mutation in GTP cyclohydrolase I (GCHI) on chromosome 14
Common in females
Diurnal variation - worse in the PM & QHS
T/M: Low dose levodopa
DOPA-responsive Dystonia
Segawa’s Syndrome
DTY5
Rhythmic palatal movements that may lead to audible clicks due to Eustachian tube contractions (clicking in the ear).
Essential (without cause) vs. Symptomatic (2/2 brainstem lesion - stroke or tumor).
Persists during sleep.
Path: Dysfunction in pathways connecting the Dentate nucleus, the Inferior Olive, Red Nucleus (Guillain-Mollaret Triangle)
MRI: Hypertrophy of the Inferior Olive
Palatal Myoclonus / Palatal Tremor
Patterned, repetitive, stereotyped movements or vocalizations that occur in response to an external or internal stimulus.
Ex: Head nodding, Arm flapping, Body rocking, Head banging, Grunting, Humming, Moaning.
May occur in normal children during times of excitement/boredom, More common in children with developmental delay & autism.
Stereotypies
Episodes of hyperkinetic abnormal movements (dystonia, chorea, choreoathetosis, ballism, dysarthria) with intervening normalcy.
Precipitated by sudden movement, startle, hyperventilation.
Familial (PRRT2 gene mutations) vs. Sporadic.
T/M: ASMs (Carbamazepine)
Paroxysmal Kinesigenic Dyskinesias (PKDs)
Mutation in Myofibrillogenesis Regular (MR-1) gene.
Attacks may last several hours without clear precipitants.
Episodes aggravated by alcohol, caffeine, fatigue.
T/M: Not responsive to ASMs.
Paroxysmal Nonkinesigenic Dyskinesia (PNKD)
Episodes of hyperkinetic abnormal movements triggered by prolonged exercise.
Mutation in Glucose-1 Transporter (GLUT-1) gene.
Paroxysmal Exertional Dyskinesias (PED)
Part of the syndrome of autosomal dominant nocturnal frontal lobe epilepsy
Paroxysmal Hypnogenic Dyskenias
Episodes of ataxia in association with facial twitching, myokymia, neuromyotonia.
Triggered by startle, movement, exercise.
Due to mutation in KCNA1 on chromosome 12
T/M: ASMs (Carbamezapine)
Episodic Ataxia Type I (EAI)
Mutation in KCNA1 on chromosome 12
Episodic Ataxia Type I (EAI)
Episodes of ataxia may be associated with brainstem symptoms (nystagmus, dysarthria).
Triggered by stress and alcohol.
Mutation in the calcium channel CACN1A4.
T/M: Acetazolamide
Episodic Ataxia Type II (EAII)
Mutation in the calcium channel CACN1A4.
Episodic Ataxia Type II (EAII)
Autosomal Dominant
Attacks ataxia with tinnitus and vertigo with attacks of myokymia in between.
T/M: Acetazolamide
Episodic Ataxia Type III (EAIII)
Episodes of ataxia with ocular motion abnormalities.
Triggered by sudden head movements
Episodic Ataxia Type IV (EAIV)
Exaggerated startle response.
Ex: Blinking, Flexion of the neck and trunk, abduction & flexion fo the arms - or - prolonged tonic startle spasms.
Familial forms result from mutations in the Glycine receptor and presynaptic glycine transporter
Hyperekplexia
Autosomal Dominant
CAG repeat = Toxic gain of function = Misfolded protein product and aggregation.
Presents in 3rd-5th decade of life
Progressive truncal + limb ataxia, spasticity, UMN findings, CN abnormalities, Neuropathy.
MRI Brain: Cerebellar Atrophy
Spinocerebellar Ataxias (SCAs)
Autosomal Recessive
CAG repeat on gene Ataxin 3 on chromosome 14
Truncal/Limb Ataxia, Cerebellar signs, Facial/Tongue Atrophy, Fasciculations, Bulbar symptoms
SCA-3
Machado-Joseph Disease
Halo Sign
Hyperintense lesion on T1 in the cerebral peduncles seen in Beta-Propeller Protein-associated Neurodegeneration
Eye of the Tiger
Hyperintensity surrounded by hypointensity in the basal ganglia seen in PKAN
