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Titolo:
THE X-CHROMOSOMAL RECESSIVE SPINOBULBAR MUSCULAR-ATROPHY (TYPE KENNEDY) - DESCRIPTION OF A FAMILY, CLINICAL-FEATURES, MOLECULAR-GENETICS, DIFFERENTIAL-DIAGNOSIS AND THERAPY
Autore:
KUHLENBAUMER G; BOCCHICCHIO M; KRESS W; YOUNG P; OBERWITTLER C; STOGBAUER F;
Indirizzi:
UNIV INSTELLING ANTWERP,NEUROGENET LAB,UNIV PLEIN 1 B-2610 WILRIJK ANTWERPEN BELGIUM UNIV MUNSTER,NEUROL KLIN & POLIKLIN D-4400 MUNSTER GERMANY UNIV WURZBURG,INST HUMAN GENET D-8700 WURZBURG GERMANY
Titolo Testata:
Nervenarzt
fascicolo: 8, volume: 69, anno: 1998,
pagine: 660 - 665
SICI:
0028-2804(1998)69:8<660:TXRSM(>2.0.ZU;2-D
Fonte:
ISI
Lingua:
GER
Soggetto:
ANDROGEN RECEPTOR GENE; TRINUCLEOTIDE-REPEAT EXPANSION; BULBOSPINAL NEURONOPATHY; CAG REPEAT; DISEASE; SIZE;
Keywords:
KENNEDY-SYNDROME; SPINOBULBAR MUSCULAR ATROPHY (SBMA); DYNAMIC MUTATIONS; ANDROGEN RECEPTOR; TRINUCLEOTIDE REPEAT EXPANSION;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Science Citation Index Expanded
Citazioni:
19
Recensione:
Indirizzi per estratti:
Citazione:
G. Kuhlenbaumer et al., "THE X-CHROMOSOMAL RECESSIVE SPINOBULBAR MUSCULAR-ATROPHY (TYPE KENNEDY) - DESCRIPTION OF A FAMILY, CLINICAL-FEATURES, MOLECULAR-GENETICS, DIFFERENTIAL-DIAGNOSIS AND THERAPY", Nervenarzt, 69(8), 1998, pp. 660-665

Abstract

The Kennedy-Syndrome is a X-linked recessive bulbospinal muscular atrophy, in some cases associated with endocrinological disturbances suchas androgen resistance and diabetes mellitus. The age of onset is usually between 20 and 40. Presenting symptoms are proximal flaccid weakness,fasciculations, cramps or tremor. Disease progression is usually slow and live expectancy is normal. It is important to distinguish the Kennedy-Syndrome from amyotrophic lateral sclerosis, spinal muscular atrophy, muscular dystrophies and other types of motor neuron disease. Kennedy disease is caused by an expanded trinucleotide repeat in the androgen receptor gene. Genetic analysis allows a precise diagnosis on an individual basis and reliable genetic counselling. An effective medical treatment does not yet exist.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 27/01/21 alle ore 02:59:34