Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0851184 (thinning)
 11,252 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The spinocerebellar ataxias, like all neurodegenerative diseases, lack objective disease- and stage-specific biomarkers. Based on reports of clinically evident optic disc atrophy or retinal disease in some ataxia patients, and the discovery that pre-symptomatic retinal thinning occurs in other neurologic diseases such as multiple sclerosis, we tested the hypothesis that subclinical neuronal or axonal loss in the retina could occur in the degenerative ataxias. Spectral domain optical coherence tomography was performed on 29 ataxia patients with genetically proven spinocerebellar ataxia (SCA) 1, 2, 3, or 6, or multisystem atrophy type C (MSA-C) and 27 age-matched normal subjects. Ataxia patients were assessed using the scale for assessment and rating of ataxia. Compared with normal control subjects, retinal nerve fibre layer (RNFL) thickness was reduced for patients with SCA2 and SCA3, and thickness in the macular region was reduced for all SCAs but SCA2.
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PMID:Retinal Nerve Fibre Layer and Macular Thinning in Spinocerebellar Ataxia and Cerebellar Multisystem Atrophy. 2186 5