In:
Journal of Child Neurology, SAGE Publications, Vol. 21, No. 11 ( 2006-11), p. 974-977
Abstract:
Hereditary spastic paraplegia is a heterogeneous group of inherited neurodegenerative disorders in which the predominant clinical feature is gait disturbance owing to spasticity and weakness of the lower limbs. Autosomal dominant hereditary spastic paraplegia is the predominant form of the disorder. To date, 10 autosomal dominant hereditary spastic paraplegia gene loci and genes for 6 of them have been identified. Spastic paraplegia 6, with a typical teenage onset and considered to be one of the more severe forms of the disease, is due to mutations in the gene NIPA1. We report a childhood-onset, aggressive, spastic paraparesis in a North American family with a c.316G 〉 A mutation of the NIPA1 gene, confirming c.316 as a mutational hot spot. (J Child Neurol 2006;21:974—977; DOI 10.2310/ 7010.2006.00236).
Type of Medium:
Online Resource
ISSN:
0883-0738
,
1708-8283
DOI:
10.1177/08830738060210111501
Language:
English
Publisher:
SAGE Publications
Publication Date:
2006
detail.hit.zdb_id:
2068710-2
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