An approach to the patient with late-onset cerebellar ataxia
- 1 November 2006
- journal article
- case report
- Published by Springer Science and Business Media LLC in Nature Clinical Practice Neurology
- Vol. 2 (11), 629-635
- https://doi.org/10.1038/ncpneuro0319
Abstract
Background An 83-year-old man presented with hypertension, hyperlipidemia, and a previous basal cell carcinoma, having developed progressive worsening of his balance and difficulty walking at the age of 78 years. He was initially diagnosed with stroke, but MRI revealed only isolated cerebellar atrophy. The patient then underwent multiple evaluations for an underlying paraneoplastic process, all of which were negative, but his symptoms progressed and he remained undiagnosed for several years. Investigations Neurological examination, laboratory blood tests, MRI, and directed genetic testing. Diagnosis Five years after becoming symptomatic, the patient was re-evaluated for a possible genetic ataxia syndrome, which was subsequently confirmed by gene testing as spinocerebellar ataxia type 6 (SCA6). Management Symptomatic medical treatment and physical, occupational, and speech therapy.Keywords
This publication has 18 references indexed in Scilit:
- Mutations in voltage-gated potassium channel KCNC3 cause degenerative and developmental central nervous system phenotypesNature Genetics, 2006
- Late-onset pure cerebellar ataxia: Differentiating those with and without identifiable mutationsJournal of the Neurological Sciences, 2005
- Phenotypic variability in human prion diseasesNeuropathology and Applied Neurobiology, 2005
- Initial diagnoses given to persons with the fragile X associated tremor/ataxia syndrome (FXTAS)Neurology, 2005
- Clinical feature profile of spinocerebellar ataxia type 1–8 predicts genetically defined subtypesMovement Disorders, 2005
- RNAi suppresses polyglutamine-induced neurodegeneration in a model of spinocerebellar ataxiaNature Medicine, 2004
- A clinical and genetic study in a large cohort of patients with spinocerebellar ataxia type 6Journal of Human Genetics, 2004
- The aetiology of sporadic adult‐onset ataxiaBrain, 2002
- The complex clinical and genetic classification of inherited ataxias. II. Autosomal recessive ataxiasNeurological Sciences, 2001
- Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the α1A-voltage-dependent calcium channelNature Genetics, 1997