Two in one: Report of a patient with spinocerebellar ataxia types 2 and 10

Sachin S. Kapur, Jennifer G Goldman*

*Corresponding author for this work

Research output: Contribution to journalArticle

10 Scopus citations

Abstract

Objective: To report a rare case of the coexistence of 2 spinocerebellar ataxia (SCA) mutations in a single patient. Design: Case report. Setting: University hospital, Movement Disorders Center. Patient: A 54-year-old man of Mexican, American Indian, and French descent with an 11-year history of gait and limb ataxia. Main Outcome Measures: Findings of clinical examination, magnetic resonance imaging, and video electroencephalographic monitoring. Results : Neurologic history revealed a gradually progressive gait and limb ataxia along with muscle cramps and sensory symptoms in his distal extremities; examination revealed executive dysfunction, dysarthria, ataxia, and sensory neuronopathy. Episodes of loss of awareness were reported, but electroencephalograms were negative. Brain imaging demonstrated severe cerebellar and brainstem atrophy. Genetic evaluation of the case revealed mutations in both the SCA2 and SCA10 genes. Conclusion: Our patient has a unique combination of genetic mutations for 2 different SCAs, types 2 and 10, which to our knowledge, has not been previously reported. His clinical phenotype is largely consistent with SCA2, but his possible seizures and Mexican heritage suggest influences of SCA10.

Original languageEnglish (US)
Pages (from-to)1200-1203
Number of pages4
JournalArchives of Neurology
Volume69
Issue number9
DOIs
StatePublished - Sep 1 2012

ASJC Scopus subject areas

  • Arts and Humanities (miscellaneous)
  • Clinical Neurology

Fingerprint Dive into the research topics of 'Two in one: Report of a patient with spinocerebellar ataxia types 2 and 10'. Together they form a unique fingerprint.

  • Cite this