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Spinocerebellar ataxia type 7: A distinctive form of autosomal dominant cerebellar ataxia with retinopathy and marked genetic anticipation
Author(s) -
GrattanSmith PJ,
Healey S,
Grigg JR,
Christodoulou J
Publication year - 2001
Publication title -
journal of paediatrics and child health
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.631
H-Index - 76
eISSN - 1440-1754
pISSN - 1034-4810
DOI - 10.1046/j.1440-1754.2001.00560.x
Subject(s) - spinocerebellar ataxia , medicine , anticipation (artificial intelligence) , ataxia , differential diagnosis , pediatrics , genetic counseling , genetics , pathology , biology , psychiatry , artificial intelligence , computer science
: When a child presents with progressive ataxia, there is a broad differential diagnosis and a very long list of potential investigations. Spinocerebellar ataxia type 7 presenting in infancy is a rare condition where a presumptive diagnosis can be made based on the clinical features alone. These include rapidly progressive ataxia, retinopathy and autosomal dominant inheritance with marked genetic anticipation of paternal origin. The father of the infant may manifest minimal symptoms at a time when the infant is severely affected. Diagnosis is confirmed by the demonstration of an expansion of a CAG repeat in the coding region of the gene on chromosome 3p. We present a case to illustrate the diagnostic difficulties. Antenatal diagnosis was performed in two subsequent pregnancies.