[Spinocerebellar ataxia type 7: clinical and molecular genetic analysis of a Mexican family].

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Article

[Spinocerebellar ataxia type 7: clinical and molecular genetic analysis of a Mexican family].

Revista de neurologia - 1 Jan 2000

Rolón Lacarriere O, Rasmussen Almaraz A, Hernández Cruz H, Carranza del Río J, González Cruz M, Gutiérrez Moctezuma J

Abstract excerpt

INTRODUCTION: Spinocerebellar ataxias (SCA) constitute a group of neurodegenerative diseases characterized by cerebellar disfunction alone or associated with other neurological anomalies. The combination of progressive cerebellar ataxia, macular pigment dystrophy, ophtalmoplegia, spasticity and an autosomal dominant pattern of transmission is characteristic of SCA 7. Genome wide linkage analysis mapped the...

Topics

Adult
Aged
Ataxin-7
Child
Child, Preschool
Disease Progression
Female
Genes, Dominant
Humans
Male
Mexico
Middle Aged
Nerve Tissue Proteins
Pedigree
Phenotype
Spinocerebellar Ataxias
Trinucleotide Repeat Expansion

Source

Open in PubMed

Identifiers

PMID: 15122543

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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