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Titolo:
Hereditary motor and sensory neuropathy-Lom (HMSNL) in a Spanish family: clinical, electrophysiological, pathological and genetic studies
Autore:
Colomer, J; Iturriaga, C; Kalaydjieva, L; Angelicheva, D; King, RHM; Thomas, PK;
Indirizzi:
Hosp St Joan Deu, Serv Neurol, Barcelona 08950, Spain Hosp St Joan Deu Barcelona Spain 08950 rv Neurol, Barcelona 08950, Spain Edith Cowan Univ, Ctr Human Genet, Perth, WA, Australia Edith Cowan Univ Perth WA Australia tr Human Genet, Perth, WA, Australia Western Australia Inst Med Res, Perth, WA, Australia Western Australia Inst Med Res Perth WA Australia , Perth, WA, Australia Royal Free Hosp & Univ Med Sch, Dept Clin Neurosci, London NW3 2PF, England Royal Free Hosp & Univ Med Sch London England NW3 2PF n NW3 2PF, England
Titolo Testata:
NEUROMUSCULAR DISORDERS
fascicolo: 8, volume: 10, anno: 2000,
pagine: 578 - 583
SICI:
0960-8966(200012)10:8<578:HMASN(>2.0.ZU;2-K
Fonte:
ISI
Lingua:
ENG
Soggetto:
LARGE MYELINATED FIBERS; DEMYELINATING NEUROPATHY; MENTAL-RETARDATION; DEAFNESS; FIXATION; GYPSIES; ABSENCE;
Keywords:
hereditary motor and sensory neuropathy type Lom; deafness;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
15
Recensione:
Indirizzi per estratti:
Indirizzo: Colomer, J Hosp St Joan Deu, Serv Neurol, Passeig St Joan Deu 2, Barcelona08950, Spain Hosp St Joan Deu Passeig St Joan Deu 2 Barcelona Spain 08950n
Citazione:
J. Colomer et al., "Hereditary motor and sensory neuropathy-Lom (HMSNL) in a Spanish family: clinical, electrophysiological, pathological and genetic studies", NEUROMUSC D, 10(8), 2000, pp. 578-583

Abstract

The clinical, electrophysiological. pathological and genetic findings are described in the first Spanish family diagnosed with hereditary motor and sensory neuropathy type Lom (HMSNL) initially identified by Kalaydjeva et al. in 1996. The three affected patients belong to a non-consanguineous family with Gypsy background that were followed up over 10 years. Serial clinical and neurophysiological examinations and genetic analysis were undertaken in every patient. Sural nerve biopsy was performed in the oldest patient. The clinical features are similar to those previously described in HMSNL andall of them showed abnormal brain auditory evoked potentials. The oldest brother developed sensorineural deafness at the age of 20. Conduction velocities were unobtainable in all patients and nerves tested except for the median nerve in the youngest child in whom conduction was severely slowed. Neuropathological examination revealed a severely depleted nerve with very fewsurviving myelinated fibers which possessed thin myelin sheaths. Schwann cell processes were arranged in circular configurations without typical onion bulb configuration. Genetic analysis showed that the maternal chromosome inherited by all three affected siblings displayed a very unusual haplotype. Our patients show the characteristic clinical, electrophysiological and pathological findings described in HMSNL and represent the first reported Spanish family affected from the disease. The genetic findings in this familyhave contributed to refine the HMSNL critical linkage region. (C) 2000 Elsevier Science B.V. All rights reserved.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 01/04/20 alle ore 11:37:43