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X–linked spastic paraplegia (SPG1), MASA syndrome and X–linked hydrocephalus result from mutations in the L1 gene

✍ Scribed by Jouet, Monique; Rosenthal, André; Armstrong, Giles; MacFarlane, John; Stevenson, Roger; Paterson, Joan; Metzenberg, Aïda; Ionasescu, Victor; Temple, Karen; Kenwrick, Susan


Book ID
109916455
Publisher
Nature Publishing Group
Year
1994
Tongue
English
Weight
658 KB
Volume
7
Category
Article
ISSN
1061-4036

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Genetic and clinical aspects of X-linked
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L1 disease is a group of overlapping clinical phenotypes including X-linked hydrocephalus, MASA syndrome, spastic paraparesis type 1, and X-linked agenesis of corpus callosum. The patients are characterized by hydrocephalus, agenesis or hypoplasia of corpus callosum and corticospinal tracts, mental

Intronic mutations in the L1CAM gene may
✍ Christian A. Hübner; Barbara Utermann; Sigrid Tinschert; Gabriele Krüger; Bernad 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 36 KB

Communicated by Mark H. Paalman L1 disease is a clinically heterogeneous X-chromosomal neurodevelopmental disorder that is frequently associated with mental retardation and congenital hydrocephalus in males. It is caused by mutations in L1CAM that encodes a multifunctional transmembrane neuronal cel