Evaluation of subacute/chronic cerebellar ataxia without other signs, unless specified

Test		Tier 1 (all patients, unless specified)	Tier 2	Tier 3
Imaging and ancillary testing		MRI of the brain with contrast NCS/EMG (if neuropathy) MRI C/T spine (if spasticity) EEG (if seizures) Autonomic testing (if autonomic signs)	If positive cerebellar autoantibodies: CT chest/abdomen/pelvis PET	As guided by positive tier 3 metabolic laboratories, for example: Muscle biopsy Magnetic resonance spectroscopy Skin biopsy
Laboratories	Toxic, metabolic, and genetic	Electrolytes Renal function Liver function	Alpha-fetoprotein Ammonia Ceruloplasmin Creatine kinase Fasting lipids Ketones Urine heavy metals Lactate, pyruvate	Lysosomal enzymes Plasma amino acids Urine organic acids Cholestenol Phytanic acid Very long chain fatty acids
	Inflammatory and autoimmune	GAD65 ANA Antigliadin antibody Anti-TPO, antithyroglobulin SSA/SSB (Ro/La) Cerebellar autoantibodies (Yo, Hu, Ri, Tr, Zic4, mGluR1, VGCC, Ma1, CRP-5, PCA-2, VGKC, Caspr2)	If positive celiac antibodies: Anti-endomysial antibody Anti-TTG antibody
	Nutritional and endocrine	Vitamin E Copper HbA1c TSH B12/methylmalonic acid/homocysteine (if sensory signs)
	Neoplastic	CBC	SPEP, IFE, UPEP
	Infectious	RPR	HTLV Lyme HIV
	Genetic testing	If positive family history	If negative tier 1 testing and chronic ataxia
Lumbar puncture			If positive autoantibody, neoplasm, infection testing, or subacute/acute onset without vascular/structural cause*

MRI: magnetic resonance imaging; NCS: nerve conduction studies; EMG: electromyography; EEG: electroencephalography; PET: positron emission tomography; GAD65: glutamic acid decarboxylase 65; ANA: antinuclear antibody; TPO: thyroid peroxidase; SSA: Sjögren's disease A; SSB: Sjögren's disease B; mGluR1: metabotropic glutamate receptor 1; VGCC: voltage-gated calcium channel; CRP-5: C-reactive protein 5; PCA-2: Purkinje cell cytoplasmic antibody type 2; VGKC: voltage-gated potassium channel; Caspr2: contactin-associated protein-like 2; TTG: tissue transglutaminase; HbA1c: hemoglobin A1c; TSH: thyroid-stimulating hormone; CBC: complete blood count; SPEP: serum protein electrophoresis; IFE: immunofixation; UPEP: urine protein electrophoresis; RPR: rapid plasma reagin; HTLV: human T-lymphotropic virus; HIV: human immunodeficiency virus; CSF: cerebrospinal fluid; VDRL: Venereal Disease Research Laboratory; IgG: immunoglobulin G; OCBs: oligoclonal bands.

* CSF testing to include protein, glucose, cell count, cultures, VDRL, IgG synthesis rate and index, OCBs, cytology, flow cytometry, lactate, 14-3-3, neurotransmitters, cerebellar autoantibodies, others.

Adapted from: Shakkottai VG, Fogel BL. Autosomal dominant spinocerebellar ataxia. Neurol Clin 2013; 31:987.

Graphic 129765 Version 3.0

خرید پکیج

Evaluation of subacute/chronic cerebellar ataxia without other signs, unless specified