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Autosomal recessive congenital cerebellar atrophy

✍ Scribed by Guzzetta, Francesco; Mercuri, Eugenio; Bonanno, Stellario; Longo, Marcello; Spano, Maria

Book ID: 121777756
Publisher: Elsevier Science
Year: 1993
Tongue: English
Weight: 635 KB
Volume: 15
Category: Article
ISSN: 0387-7604
DOI: 10.1016/0387-7604(93)90084-L

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Nonprogressive cerebellar hypoplasia was first described by Norman [1940]. It is characterized by nonprogressive ataxia, delay in language acquisition, persistent dysarthria, strabismus, hypotonia, and mental retardation. Neuroimaging demonstrates cerebellar atrophy affecting the vermis and/or hemis