Table 3.

Recommended Evaluations Following Initial Diagnosis in Individuals with Spinocerebellar Ataxia Type 14.

System/ConcernEvaluationComment
Neurologic Neurology referral to assess for cerebellar motor dysfunction (gait ataxia, dysarthria, tremor, dystonia, nystagmus)Use standardized scale to establish baseline for ataxia (SARA, ICARS, or BARS).
Speech For those w/dysarthria: speech/language evalIf dysarthria is atypical or severe enough to cause communication problems
Cognition Neuropsychiatric eval for those w/problems in learning &/or attentionFor example: MMSE, MoCA, WISC & WAIS
Miscellaneous/
Other
Consultation w/clinical geneticist &/or genetic counselor

BARS = Brief Ataxia Rating Scale; ICARS = International Co-operative Ataxia Rating Scale; MMSE= Mini-Mental State Exam; MoCA= Montreal Cognitive Assessment; SARA= Scale for the Assessment and Rating of Ataxia; WAIS = The Wechsler Adult Intelligence Scale; WISC= Wechsler Intelligence Scales for Children

From: Spinocerebellar Ataxia Type 14

Cover of GeneReviews®
GeneReviews® [Internet].
Adam MP, Feldman J, Mirzaa GM, et al., editors.
Seattle (WA): University of Washington, Seattle; 1993-2024.
Copyright © 1993-2024, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved.

GeneReviews® chapters are owned by the University of Washington. Permission is hereby granted to reproduce, distribute, and translate copies of content materials for noncommercial research purposes only, provided that (i) credit for source (http://www.genereviews.org/) and copyright (© 1993-2024 University of Washington) are included with each copy; (ii) a link to the original material is provided whenever the material is published elsewhere on the Web; and (iii) reproducers, distributors, and/or translators comply with the GeneReviews® Copyright Notice and Usage Disclaimer. No further modifications are allowed. For clarity, excerpts of GeneReviews chapters for use in lab reports and clinic notes are a permitted use.

For more information, see the GeneReviews® Copyright Notice and Usage Disclaimer.

For questions regarding permissions or whether a specified use is allowed, contact: ude.wu@tssamda.

NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.