Movement Disorders Workup

26 April 2005

Bloods

FBE

UCE, Ca, Mg, PO4, LFT

TFT

ANA, ACE, antiphospholipid antibodies

Ceruloplasmin (or 24 hr urinary copper)

Serum copper

ASOT, anitDNAse B

Imaging

MRI brain

CIT SPECT (reflects dopaminergic neuronal density in the basal ganglia)

F-Dopa PET (reflects dopaminergic neuronal density in the basal ganglia)

Ceratec SPECT

Ophthalmology

Kayser Fleischer rings

Videotape the disorder

SHIT!!! What is it?

There are many phenotypes or variable expressions and penetrance of the one disease. When faced with this situation, cast out a broad net & include some of the differentials listed below with their associated diagnostic investigations. Assessing family members maybe of assistance.

Differential diagnosis:

Huntington’s Disease

Friedreich’s ataxia / FARR (Friedreich’s Ataxia with Retained Reflexes)

Spinocerebellar ataxia

Paroxysmal kinesogenic dyskinesia (short, intermediate, prolonged)

Episodic ataxia

DRPLA (Dentatorubropallidoluysian atrophy)

Mitochondrial disorders

Progressive myoclonic epilepsies

Lysosomal storage disorders inc Tay-Sach’s disease

Sialidoses

Lafora body disease

Neuronal ceroid lipofuschinosis

Niemann Pick Type C

Cherry red spot myoclonus

Acquired hepatocerebral degeneration

Dopa responsive dystonia / Segawa’s disease

Pelizaeus-Merzbacher disease

Ataxia telengiectasia

This is scraping the bottom of the barrel for chorea

Proprionic acidemia

Glutaric aciduria Type1 (look for CNS white matter changes)

Keratin sulfaturia

Leigh's disease

Bloods

FBE: look for neuroacanthocytes by wet prep, stress testing & EM

CK: often elevated in neuroacanthocytosis

lactate

NH3

Lysosomal storage disorders battery inc Tay-Sach’s disease

PLP (proteolipid protein)

Urine

Organic acids / amminoaciduria

CSF

Lactate

Genetic tests

Trinucleotide repeats for Huntington’s, Friedreich’s, DRPLA, SCA 1,2,3,6,7,10,12

Dodecapeptide  repeats for Unverricht Lundborg disease

DYT 1 to 12 (see dystonia molecular classification on Contents page)

Parkin, a-synuclein gene abnormalities

Mitochondrial mutation analysis

Skin biopsy +/- Muscle biopsy

Useful for mitochondrial disorders, neuronal ceroid lipofuschinosis, Lafora body, Unverricht Lundborg, some of the storage disorders

Ophthalmology

Cherry red spot (can also be seen in Tay Sach’s disease)

Saccadic & pursuit movements

Electrophysiology

(see section on myoclonus in Contents page)

EEG

Somatosensory evoked potentials

Jerk locked back averaged EEG

Activation order by surface EMG

C reflex

Tremor analysis

Provocation tests

Coffee, exercise etc for episodic ataxia, paroxysmal kinesogenic dyskinesia