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Titolo:
X-CHROMOSOMAL BULBOSPINAL NEURONOPATHY (X -BSN, KENNEDY SYNDROME) - ADISORDER WITH REPETITIVE TRIPLET SEQUENCES - CASE-STUDIES, DIFFERENTIAL-DIAGNOSIS AND MOLECULAR-GENETIC ASPECTS
Autore:
ABEL A; DANEK A; BORASIO GD; WITT TN;
Indirizzi:
UNIV MUNICH,KLINIKUM GROSSHADERN,NEUROL KLIN,MARCHIONINISTR 15 D-81366 MUNICH GERMANY UNIV MUNICH,NEUROCHIRURG KLIN D-81366 MUNICH GERMANY
Titolo Testata:
Nervenarzt
fascicolo: 12, volume: 67, anno: 1996,
pagine: 1011 - 1019
SICI:
0028-2804(1996)67:12<1011:XBN(-K>2.0.ZU;2-2
Fonte:
ISI
Lingua:
GER
Soggetto:
BULBAR MUSCULAR-ATROPHY; ANDROGEN RECEPTOR GENE; TRINUCLEOTIDE REPEAT; CAG REPEAT; LATE-ONSET; DISEASE; MUTATIONS; BINDING; MOTOR; NEUROPATHY;
Keywords:
X-CHROMOSOMAL RECESSIVE BULBOSPINAL NEURONOPATHY; KENNEDY SYNDROME; TRIPLET REPEAT DISEASE; ANDROGEN RECEPTOR; MOTONEURON DISEASE;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Science Citation Index Expanded
Citazioni:
45
Recensione:
Indirizzi per estratti:
Citazione:
A. Abel et al., "X-CHROMOSOMAL BULBOSPINAL NEURONOPATHY (X -BSN, KENNEDY SYNDROME) - ADISORDER WITH REPETITIVE TRIPLET SEQUENCES - CASE-STUDIES, DIFFERENTIAL-DIAGNOSIS AND MOLECULAR-GENETIC ASPECTS", Nervenarzt, 67(12), 1996, pp. 1011-1019

Abstract

X-chromosomal recessive bulbospinal neuronopathy (X-BNS, Kennedy's disease) is an important differential diagnosis of amyotrophic lateral sclerosis. We present the data of ten own patients along with a review of the literature on this uncommon disease which is caused by an expanded GAG-repeat in the androgen receptor gene. This mutation probably affects the transcription regulating activity of the androgen receptor in neurons. Signs and symptoms of X-BSN can be derived from partial insensitivity for androgens and a mixed, mainly motor neuronopathy. The clinical diagnosis is based on: 1. lower motor neuron weakness of bulbar and proximal limb muscles with onset in the third to fifth decade, 2. cramps and pronounced fasciculations, particularly of facial muscles, 3. postural tremor, 4. diminished or absent sensory action potentials inspite of only minor sensory impairment, 5. gynecomastia, and 6. infertility, diabetes mellitus and hyperlipoproteinemia in a minority of cases. Unlike amyotrophic lateral sclerosis, disease progression is slow with barely shortened life expectancy, which should be stressed in patient counselling. Causal treatment is as yet unavailable but several aspects of palliative medicine should be considered.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 29/11/20 alle ore 08:51:28