[X chromosomal bulbospinal neuropathy (X-BSN, Kennedy syndrome): an illness with repetitive triplet sequences. Case report, differential diagnosis and molecular genetics aspects].

doi:10.1007/s001150050084

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Article

[X chromosomal bulbospinal neuropathy (X-BSN, Kennedy syndrome): an illness with repetitive triplet sequences. Case report, differential diagnosis and molecular genetics aspects].

Der Nervenarzt - 1 Dec 1996

Abel A, Danek A, Borasio G D, Witt T N

Abstract excerpt

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...

Topics

Amyotrophic Lateral Sclerosis
Bulbar Palsy, Progressive
Genetic Carrier Screening
Humans
Male
Middle Aged
Motor Neuron Disease
Neurologic Examination
Pedigree
Phenotype
Receptors, Androgen
Sex Chromosome Aberrations
Trinucleotide Repeats
X Chromosome

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Open in PubMed

Identifiers

PMID: 9082189
DOI: 10.1007/s001150050084

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9082189-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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