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(Reference retrieved automatically from Web of Science through information on FAPESP grant and its corresponding number as mentioned in the publication by the authors.)

Expanding the differential diagnosis of inherited neuropathies with non-uniform conduction: Andermann syndrome

Full text
Author(s):
Lourenco, Charles M. ; Dupre, Nicolas [1] ; Riviere, Jean-Baptiste [2] ; Rouleau, Guy A. [2] ; Marques, Vanessa D. ; Genari, Adriana B. ; Santos, Antonio C. [3] ; Barreira, Amilton A. ; Marques, Jr., Wilson [4]
Total Authors: 9
Affiliation:
[1] Univ Laval, Fac Med, CHAUQ Enfant Jesus, Dept Neurol Sci, Quebec City, PQ G1K 7P4 - Canada
[2] Univ Montreal, Dept Med, Montreal, PQ H3C 3J7 - Canada
[3] Univ Sao Paulo, Sch Med Ribeirao Preto, Dept Internal Med, BR-14049900 Sao Paulo - Brazil
[4] Univ Sao Paulo, Fac Med Ribeirao Preto, Sch Med Ribeirao Preto, Dept Neurosci & Behav Neurosci, BR-14049900 Sao Paulo - Brazil
Total Affiliations: 4
Document type: Journal article
Source: JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM; v. 17, n. 1, p. 123-127, MAR 2012.
Web of Science Citations: 5
Abstract

Uniform conduction slowing has been considered a characteristic of inherited demyelinating neuropathies. We present an 18-year-old girl, born from first cousins, that presented a late motor and psychological development, cerebellar ataxia, facial diplegia, abnormal eye movement, scoliosis, and corpus callosum agenesis, whose compound muscle action potentials were slowed and dispersed. A mutation was found on KCC3 gene, confirming Andermann syndrome, a disease that must be included in the differential diagnosis of inherited neuropathies with non-uniform conduction slowing. (AU)

FAPESP's process: 06/05036-0 - Genotypical profile of a Brazilian population of patients with hereditary motor and sensory neuropathy
Grantee:Wilson Marques Junior
Support Opportunities: Regular Research Grants