X-chromosomale bulbospinale Neuronopathie (X-BSN, Kennedy-Syndrom): Eine Erkrankung mit repetitiven Tripletsequenzen. Kasuistik, Differentialdiagnose und molekulargenetische Aspekte [X chromosomal bulbospinal neuropathy (X-BSN, Kennedy syndrome): an illness with repetitive triplet sequences. Case report, differential diagnosis and molecular genetics aspects].

Détails

ID Serval
serval:BIB_EEBBFA301A35
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Etude de cas (case report): rapporte une observation et la commente brièvement.
Collection
Publications
Titre
X-chromosomale bulbospinale Neuronopathie (X-BSN, Kennedy-Syndrom): Eine Erkrankung mit repetitiven Tripletsequenzen. Kasuistik, Differentialdiagnose und molekulargenetische Aspekte [X chromosomal bulbospinal neuropathy (X-BSN, Kennedy syndrome): an illness with repetitive triplet sequences. Case report, differential diagnosis and molecular genetics aspects].
Périodique
Nervenarzt
Auteur(s)
Abel A., Danek A., Borasio G.D., Witt T.N.
ISSN
0028-2804 (Print)
ISSN-L
0028-2804
Statut éditorial
Publié
Date de publication
1996
Volume
67
Numéro
12
Pages
1011-1019
Langue
allemand
Notes
Publication types: Case Reports ; English Abstract ; Journal Article ; ReviewPublication Status: ppublish
Résumé
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 CAG-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.
Mots-clé
Amyotrophic Lateral Sclerosis/diagnosis, Amyotrophic Lateral Sclerosis/genetics, Bulbar Palsy, Progressive/diagnosis, Bulbar Palsy, Progressive/genetics, Heterozygote Detection, Humans, Male, Middle Aged, Motor Neuron Disease/diagnosis, Motor Neuron Disease/genetics, Neurologic Examination, Pedigree, Phenotype, Receptors, Androgen/genetics, Sex Chromosome Aberrations/genetics, Trinucleotide Repeats/genetics, X Chromosome
Pubmed
Web of science
Création de la notice
13/01/2014 17:48
Dernière modification de la notice
03/03/2018 22:33
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