New HSN2 mutation in Japanese patient with hereditary sensory and autonomic neuropathy type 2

Neurology

Volumn 66, Issue 8, 2006, Pages 1251-1252

  Takagi, M ^a   Ozawa, T ^a   Hara, K ^a   Naruse, S ^b   Ishihara, T ^a   Shimbo, J ^a   Igarashi, S ^a   Tanaka, K ^a   Onodera, O ^a   Nishizawa, M ^a  

^a Niigata University   (Japan)

^b NAGAOKA RED CROSS HOSPITAL   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; CASE REPORT; CONSANGUINEOUS MARRIAGE; FRAMESHIFT MUTATION; GENE; GENE MUTATION; HISTOPATHOLOGY; HSN2 GENE; HUMAN; JAPAN; MALE; NERVE CONDUCTION; NEUROPATHY; PRIORITY JOURNAL; STOP CODON;

ADULT; ASIAN CONTINENTAL ANCESTRY GROUP; CANADA; FRAMESHIFT MUTATION; HEREDITARY SENSORY AND AUTONOMIC NEUROPATHIES; HUMANS; JAPAN; MALE; NERVE TISSUE PROTEINS; PEDIGREE;

EID: 33646683605     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.wnl.0000208415.90685.cd     Document Type: Article

References (6)

1. Christopher JK, Peter JD. HSANs: Clinical features, pathologic classification, and molecular genetics. In: Dyke PJ, Thomas, PK, eds. Peripheral Neuropathy. 4th ed. Philadelphia: Elsevier Saunders; 2005:1809-1844.
2. Lafreniere RG, MacDonald ML, Dube MP, et al. Identification of a novel gene (HSN2) causing hereditary sensory and autonomic neuropathy type II through the Study of Canadian Genetic Isolates. Am J Hum Genet 2004;74:1064-1073.
3. Riviere JB, Verlaan DJ, Shekarabi M, et al. A mutation in the HSN2 gene causes sensory neuropathy type II in a Lebanese family. Ann Neurol 2004;56:572-575.
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5. Pareyson D, Auer-Grumbach M, Coen K, et al. New mutations in the HSN2 gene in two cases of HSAN type II. Presented at the15th Meeting of the European Neurological Society; June 21, 2005, Vienna.
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