Peripheral neuropathy in chromosome 16q22.1 linked autosomal dominant cerebellar ataxia [3]

Journal of Neurology, Neurosurgery and Psychiatry

Volumn 78, Issue 9, 2007, Pages 1009-1011

  Furiya, Yoshiko ^a   Hirano, Makito ^a   Nomura, Masami ^b   Asai, Hirohide ^a   Kiriyama, Takao ^a   Ueno, Satoshi ^a  

^a NARA MEDICAL UNIVERSITY   (Japan)

^b Kainan Hospital Aichi Prefectural Welfare Federation of Agricultural Cooperatives   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AGED; ANAMNESIS; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; CEREBELLAR ATAXIA; CHROMOSOME 16Q; CHROMOSOME 22; CLINICAL FEATURE; FEMALE; GENETIC ANALYSIS; GENETIC POLYMORPHISM; HAPLOTYPE; HUMAN; LETTER; MALE; NUCLEAR MAGNETIC RESONANCE IMAGING; PERIPHERAL NEUROPATHY; PRIORITY JOURNAL; SEQUENCE ANALYSIS; TENDON REFLEX; CHROMOSOME 16; GENETICS; MIDDLE AGED; ORTHOSTATIC HYPOTENSION;

GUANINE NUCLEOTIDE EXCHANGE FACTOR; PLEKHG4 PROTEIN, HUMAN; SPECTRIN; UNCLASSIFIED DRUG;

AGED, 80 AND OVER; CEREBELLAR ATAXIA; CHROMOSOMES, HUMAN, PAIR 16; FEMALE; GUANINE NUCLEOTIDE EXCHANGE FACTORS; HUMANS; HYPOTENSION, ORTHOSTATIC; MALE; MIDDLE AGED; PERIPHERAL NERVOUS SYSTEM DISEASES; SPECTRIN;

EID: 34548189263     PISSN: 00223050     EISSN: 1468330X     Source Type: Journal    
DOI: 10.1136/jnnp.2006.103895     Document Type: Letter

References (5)

1. Ishikawa K, Toru S, Tsunemi T, et al. An autosomal dominant cerebellar ataxia linked to chromosome 16q22.1 is associated with a single-nucleotide substitution in the 5′ untranslated region of the gene encoding a protein with spectrin repeat and Rho guanine-nucleotide exchange-factor domains. Am J Hum Genet 2005;77:280-96.
2. Owada K, Ishikawa K, Toru S, et al. A clinical, genetic, and neuropathologic study in a family with 16q-linked ADCA type III. Neurology 2005;65:629-32.
3. Trouillas P, Takayanagi T, Hallett M, et al. International Cooperative Ataxia Rating Scale for pharmacological assessment of the cerebellar syndrome. The Ataxia Neuropharmacology Committee of the World Federation of Neurology. J Neurol Sci 1997;145:205-11.
4. van de Warrenburg BP, Notermans NC, Schelhaas HJ, et al. Peripheral nerve involvement in spinocerebellar ataxias. Arch Neurol 2004;61:257-61.
5. Manto MU. The wide spectrum of spinocerebellar ataxias (SCAs). Cerebellum 2005;4:2-6.