TABLE 2 Recommended secondary clinical evaluation for acquired causes of ataxia in an adult patient.
From the following article:
An approach to the patient with late-onset cerebellar ataxia
Brent L Fogel and Susan Perlman
BACK TO ARTICLE| Tier denoting frequency of use in the evaluation | Secondary laboratory testinga | Differential diagnosisb | Secondary diagnostic studiesa | Differential diagnosisb |
|---|---|---|---|---|
aNote that not all patients will require all tests or studies listed, and the evaluation should be guided by clinical phenotype and neurological examination. | ||||
bSelected differential diagnoses are shown in association with each test or study. | ||||
cIncludes general tests and common studies that will be required by most patients with a normal initial screen. | ||||
dIncludes autoimmune/infectious and cerebrospinal fluid tests, as well as more-specific diagnostic tests that may be required in certain patients. | ||||
eIncludes tests and studies that are only useful in specific subsets of ataxia patients. | ||||
| Ic | Angiotensin-converting enzyme (ACE) Ammonia Ceruloplasmin Copper Creatine kinase (CK) Fasting lipids Lactate Pyruvate Serum/urine protein electrophoresis (SPEP/UPEP) Serum ketones Urine heavy metals | Sarcoidosis Liver failure/urea cycle defects Copper myelopathy, Wilson's disease Myopathy Cholesterol metabolic disorders Mitochondrial disease Lymphoproliferative disorders Metabolic disorders Heavy metal toxicity | Electro-encephalogram (EEG) Electromyogram (EMG)/nerve conduction velocity (NCV) Somatosensory evoked potential (SSEP)/visual evoked potential (VEP) | Epilepsy/Creutzfeldt–Jakob disease (CJD) Neuropathy Neuro degenerative/demyelinating disease |
| IId | Antigliadin antibodies Anti-GAD65 antibodies Anti-cerebellar antibodies (Hu, Yo, Ri, Ma, Ta, CARP 8, CV2, Tr, LEMS, mGluR1, CRMP5, GQ1b, amphiphysin, PCA-2, and others) Human T-cell lymphotropic virus type I/II (HTLV I/II) HIV Lyme titers SSA/SSB antibodies | Gluten-sensitive enteropathy Stiff-person syndrome or variants Paraneoplastic cerebellar ataxia Human T-cell lymphotropic virus (HTLV)-associated myelopathy HIV-associated neurological disease Lyme-associated neurological disease Sjögren's syndrome | Autonomic testing/orthostatics FDG-PET scan Muscle biopsy | Multiple system atrophy Metabolic disorders Mitochondrial disease |
| IIId | Cerebrospinal fluid (CSF) analysis (protein, cell count, glucose, cultures, venereal disease research laboratory [VDRL], IgG synthesis, oligoclonal bands, cytology, lactate, 14-3-3 protein, paraneoplastic antibodies, and other selected tests) | Creutzfeldt–Jakob disease (CJD), encephalitis, immune-mediated polyneuropathy, inborn errors of metabolism, mitochondrial disease, multiple sclerosis (MS), neoplasm, neurosyphilis, paraneoplastic cerebellar ataxia, Whipple's disease | [18F]fluoro-L-DOPA (FDOPA)-PET scan Magnetic resonance spectroscopy Nerve biopsy | Parkinson's disease Metabolic disorders Neuropathy |
| IVe | Lysosomal screen Plasma amino acids Urine organic acids Very long chain fatty acids | Lysosomal storage disease Inborn errors of metabolism Peroxisomal disorders | Bone marrow biopsy Brain biopsy Conjunctival or skin biopsy | Lympho proliferative disorders Prion disease Storage disorders |
