NDLI: Infantile Childhood Onset of Spinocerebellar Ataxia Type 2

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Infantile Childhood Onset of Spinocerebellar Ataxia Type 2

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Infantile Childhood Onset of Spinocerebellar Ataxia Type 2

Content Provider	Springer Nature Link
Author	Di Fabio, Roberto Santorelli, Filippo Bertini, Enrico Balestri, Martina Cursi, Laura Tessa, Alessandra Pierelli, Francesco Casali, Carlo
Copyright Year	2011
Abstract	Spinocerebellar ataxia type 2 (SCA2) is a late-onset autosomal dominant cerebellar ataxia caused by triplet CAG/CTG expansion in the ATX2 gene. The initial symptoms usually appear when subjects are in their 30s. Pediatric onset is less common and usually associated with larger triplet expansions. We here report the case of a 1-year-old girl who presented with facial dysmorphism, dystonic features, developmental delay, and retinitis pigmentosa. She was diagnosed as carrying an expanded CAG/CTG tract (92 repeats) before a molecular diagnosis of SCA2 was made in her father. Facial dysmorphism associated with developmental delay and retinitis pigmentosa in early childhood should prompt a careful family investigation for ataxia and study of ATX2.
Starting Page	526
Ending Page	530
Page Count	5
File Format	PDF
ISSN	14734222
Journal	The Cerebellum
Volume Number	11
Issue Number	2
e-ISSN	14734230
Language	English
Publisher	Springer-Verlag
Publisher Date	2011-10-06
Publisher Place	New York
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Autosomal dominant cerebellar ataxia Spinocerebellar ataxia type 2 Early childhood Facial dysmorphism Neurology Neurosciences Neurobiology
Content Type	Text
Resource Type	Article
Subject	Neurology Neurology (clinical)

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