Novel splice site mutation of aspartoacylase gene in a Turkish patient with Canavan disease
β Scribed by Peter L Rady; JM Penzien; Trini Vargas; Stephen K Tyring; Reuben Matalon
- Book ID
- 114464811
- Publisher
- Elsevier Science
- Year
- 2000
- Tongue
- English
- Weight
- 226 KB
- Volume
- 4
- Category
- Article
- ISSN
- 1090-3798
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## To the Editor: Canavan disease (CD) is an autosomal recessive neurodegenerative disorder affecting white matter and leading to spongy degeneration. Macroencephaly is characteristic in children with this severe leukodystrophy. The disease is caused by the deficiency of aspartoacylase (ASPA) and i
## Abstract We describe two sisters with a mildβonset variant of Canavan's disease who presented at age 50 and 19 months with developmental delay but without macrocephaly, hypotonia, spasticity, or seizures. Remarkably, both patients had ageβappropriate head control, gross motor development, and mu