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Canavan disease in compound heterozygote with novel mutation (C913 → A) in aspartoacylase gene

✍ Scribed by E.H. Kolodny; M.A. Gama Sosa; E. Leshinsky; D. Dwyer; S. Battistini; R. De Gasperi


Book ID
119173596
Publisher
Elsevier Science
Year
1994
Tongue
English
Weight
131 KB
Volume
11
Category
Article
ISSN
0887-8994

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Mild-onset presentation of Canavan's dis
✍ Christopher G. Janson; Edwin H. Kolodny; Bai-Jin Zeng; Srinivasa Raghavan; Grego 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 63 KB 👁 2 views

## Abstract We describe two sisters with a mild‐onset 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 age‐appropriate head control, gross motor development, and mu