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Titolo:
Clinical and molecular studies in a family with probable X-linked dominantCharcot-Marie-Tooth disease involving the central nervous system
Autore:
Hisama, FM; Lee, HH; Vashlishan, A; Tehumalla, P; Russell, DS; Auld, E; Goldstein, JM;
Indirizzi:
Yale Univ, Sch Med, Dept Neurol, Neurogenet Program, New Haven, CT 06520 USA Yale Univ New Haven CT USA 06520 rogenet Program, New Haven, CT 06520 USA Yale Univ, Sch Med, Dept Psychiat, New Haven, CT USA Yale Univ New Haven CT USA iv, Sch Med, Dept Psychiat, New Haven, CT USA Vet Adm Med Ctr, Dept Med, Div Ambulatory Care, W Haven, CT 06516 USA Vet Adm Med Ctr W Haven CT USA 06516 bulatory Care, W Haven, CT 06516 USA
Titolo Testata:
ARCHIVES OF NEUROLOGY
fascicolo: 11, volume: 58, anno: 2001,
pagine: 1891 - 1896
SICI:
0003-9942(200111)58:11<1891:CAMSIA>2.0.ZU;2-T
Fonte:
ISI
Lingua:
ENG
Soggetto:
MOTOR-SENSORY NEUROPATHY; RETT-SYNDROME; PROTEOLIPID PROTEIN; MENTAL-RETARDATION; HEREDITARY MOTOR; CONNEXIN32 GENE; MUTATIONS; DEAFNESS; INVOLVEMENT; INHERITANCE;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
29
Recensione:
Indirizzi per estratti:
Indirizzo: Hisama, FM Yale Univ, Sch Med, Dept Neurol, Neurogenet Program, LCI 1000,POB 208018, New Haven, CT 06520 USA Yale Univ LCI 1000,POB 208018 New Haven CT USA 06520 06520 USA
Citazione:
F.M. Hisama et al., "Clinical and molecular studies in a family with probable X-linked dominantCharcot-Marie-Tooth disease involving the central nervous system", ARCH NEUROL, 58(11), 2001, pp. 1891-1896

Abstract

Objective: To investigate the clinical and molecular characteristics of anapparently X-linked dominant form of Charcot-Marie-Tooth (CMT) disease in a family with central nervous system involvement and additional features. Background: Charcot-Marie-Tooth disease may be inherited as an autosomal dominant, autosomal recessive, or X-linked trait. in the X-linked dominant form of CMT, females demonstrate milder clinical and electrophysiological features compared with their male relatives. Methods: Clinical and related examinations were performed in 4 affected individuals from a family with a novel form of CMT affecting males more severely than females. DNA analysis of the connexin 32 (Cx32) gene and proteolipid protein (PLP) gene was performed. We genotyped 3 members of the family to determine which regions of the X chromosome were inherited discordantly in the affected and unaffected brothers. Results: Clinical studies revealed significant spasticity, hyperreflexia, and delayed central conduction, in addition to peripheral neuropathy. Nerveconduction velocities were slower in the affected males than in the affected females. Direct DNA sequencing of the Cx32 coding region and neural-specific promoter were normal. A PLP null mutation was excluded. Levels of verylong chain fatty acids were normal. Genotyping studies of the X chromosomesupported X-linked inheritance of the neuropathy. Conclusions: This family differs from others with hereditary motor and sensory neuropathic diseases by the presence of upper motor neuron signs and additional features. The clinical features and inheritance pattern are consistent with X-linked dominant inheritance or autosomal dominant inheritance.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 21/01/20 alle ore 06:51:38