Cerebellar ataxia, hypogonadism and chorioretinopathy: Molecular analysis of an Italian family

R. Rizzi, V. Carelli, L. Monari, M. Mochi, R. Liguori, M. Sensi, S. Cocozza, A. Filla, P. Montagna

Research output: Contribution to journalArticle

Abstract

This study aimed to determine if cerebellar ataxia, hypogonadism and chorioretinopathy (AHCR) is associated with mutations in mitochondrial DNA or in genes responsible for spinocerebellar ataxias (SCA1, SCA2, SCA3 and Friedreich's ataxia). Two brothers with cerebellar ataxia, hypogonadism and chorioretinopathy and their unaffected parents underwent molecular analysis for duplications and deletions in mitochondrial DNA (mtDNA), point mutations in the ATP ase 6 gene, and expansions of CAG repeats (at 6p22-p23, 12q24.1, 14q32.1) and of GAA repeats (at gene X25 on chromosome 9ql3). The research was negative for all mutations. Our findings confirm that AHCR is a distinct disease within the inherited cerebellar ataxias.

Original languageEnglish
Pages (from-to)41-44
Number of pages4
JournalItalian Journal of Neurological Sciences
Volume19
Issue number1
Publication statusPublished - 1998

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Keywords

  • Cerebellar ataxia
  • Chorioretinopathy hypogonadism
  • Genetics

ASJC Scopus subject areas

  • Neuroscience(all)
  • Clinical Neurology

Cite this

Rizzi, R., Carelli, V., Monari, L., Mochi, M., Liguori, R., Sensi, M., Cocozza, S., Filla, A., & Montagna, P. (1998). Cerebellar ataxia, hypogonadism and chorioretinopathy: Molecular analysis of an Italian family. Italian Journal of Neurological Sciences, 19(1), 41-44.