PMID: 3031222Mar 1, 1987

X-linked bulbo-spinal neuronopathy: a family study of three patients

Journal of Neurology, Neurosurgery, and Psychiatry
J WildeD Thrush

Abstract

The clinical features of two brothers and one nephew with X-linked recessive bulbo-spinal neuronopathy are described. The neurophysiological investigations and sural nerve biopsy, previously unreported, confirmed that both motor and sensory nerves are affected. Because of the genetic implications, the importance is stressed of recognising this disorder as a separate entity which should not be classified with the spinal muscular atrophies.

References

Jul 1, 1978·Muscle & Nerve·S P RingelH A Lubs
Apr 1, 1975·Journal of the Neurological Sciences·C StefanisC P Panayiotopoulos
Nov 1, 1975·Journal of Neurology, Neurosurgery, and Psychiatry·M S Schwartz, M Swash
Nov 1, 1982·Journal of Neurology, Neurosurgery, and Psychiatry·A E HardingJ R Ponsford
May 1, 1956·A.M.A. Archives of Neurology and Psychiatry·E KUGELBERG, L WELANDER

Citations

Mar 1, 1996·Prenatal Diagnosis·C YapijakisC Papageorgiou
Jul 1, 1994·Journal of the Neurological Sciences·U MüllerA Köhler
Sep 30, 2000·Journal of Clinical Neurophysiology : Official Publication of the American Electroencephalographic Society·A HirataK Kamakura
Jul 1, 1997·Brain Pathology·M A Nance
May 1, 1992·Journal of Neurology, Neurosurgery, and Psychiatry·T KachiI Sobue
Jun 28, 2014·Brain : a Journal of Neurology·Kristien PeetersAlbena Jordanova
Apr 15, 2005·Arquivos de neuro-psiquiatria·João Aris KouyoumdjianRogério Gayer Machado de Araújo
Mar 1, 1994·Acta Neurologica Scandinavica·W Trojaborg, C H Wulff
Jan 1, 1993·Acta Neurologica Scandinavica·C Ertekin, H Sirin

Related Concepts

Macro-Creatine Kinase
Genetic Linkage Analysis
Neurogenic Muscular Atrophy
Nerve Conduction Function
Afferent Neuron
Peripheral Neuropathy
X Chromosome

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