Warning: Undefined array key "mm" in /www/wwwroot/www.ai-bt.com/si.php on line 10 Deprecated: trim(): Passing null to parameter #1 ($string) of type string is deprecated in /www/wwwroot/www.ai-bt.com/si.php on line 10 X-linked bulbo-spinal neuronopathy: a family study of three patients.

Literature DB >> 3031222

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

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.

Entities: Disease Species

Mesh：

Substances：
Creatine Kinase

Year: 1987 PMID： 3031222 PMCID： PMC1031791 DOI： 10.1136/jnnp.50.3.279

Source DB: PubMed Journal: J Neurol Neurosurg Psychiatry ISSN： 0022-3050 Impact factor: 10.154

7 in total

1. Scapuloperoneal atrophy with sensory involvement: Davidenkow's syndrome.

Authors: M S Schwartz; M Swash
Journal: J Neurol Neurosurg Psychiatry Date: 1975-11 Impact factor: 10.154

2. [Hereditary motor neuron disease: the proximal, adult, sex-linked form (or Kennedy disease). Clinical and neuroendocrinologic observations].

Authors: J Schoenen; P J Delwaide; J J Legros; P Franchimont
Journal: J Neurol Sci Date: 1979-05 Impact factor: 3.181

3. Heredofamilial juvenile muscular atrophy simulating muscular dystrophy.

Authors: E KUGELBERG; L WELANDER
Journal: AMA Arch Neurol Psychiatry Date: 1956-05

4. X-linked spinal and bulbar muscular atrophy of late onset. A separate type of motor neuron disease?

Authors: C Stefanis; T h Papapetropoulos; S Scarpalezos; G Lygidakis; C P Panayiotopoulos
Journal: J Neurol Sci Date: 1975-04 Impact factor: 3.181

5. Progressive proximal spinal and bulbar muscular atrophy of late onset. A sex-linked recessive trait.

Authors: W R Kennedy; M Alter; J H Sung
Journal: Neurology Date: 1968-07 Impact factor: 9.910

6. Late-onset X-linked recessive spinal and bulbar muscular atrophy.

Authors: S P Ringel; N S Lava; M M Treihaft; M L Lubs; H A Lubs
Journal: Muscle Nerve Date: 1978 Jul-Aug Impact factor: 3.217

7. X-linked recessive bulbospinal neuronopathy: a report of ten cases.

Authors: A E Harding; P K Thomas; M Baraitser; P G Bradbury; J A Morgan-Hughes; J R Ponsford
Journal: J Neurol Neurosurg Psychiatry Date: 1982-11 Impact factor: 10.154

7 in total

4 in total

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

1. Scapuloperoneal atrophy with sensory involvement: Davidenkow's syndrome.

2. [Hereditary motor neuron disease: the proximal, adult, sex-linked form (or Kennedy disease). Clinical and neuroendocrinologic observations].

3. Heredofamilial juvenile muscular atrophy simulating muscular dystrophy.

4. X-linked spinal and bulbar muscular atrophy of late onset. A separate type of motor neuron disease?

5. Progressive proximal spinal and bulbar muscular atrophy of late onset. A sex-linked recessive trait.

6. Late-onset X-linked recessive spinal and bulbar muscular atrophy.

7. X-linked recessive bulbospinal neuronopathy: a report of ten cases.

1. Central motor and sensory conduction in X-linked recessive bulbospinal neuronopathy.

2. Preventing the Androgen Receptor N/C Interaction Delays Disease Onset in a Mouse Model of SBMA.

Review 3. Clinical and genetic diversity of SMN1-negative proximal spinal muscular atrophies.

4. Impaired Nuclear Export of Polyglutamine-Expanded Androgen Receptor in Spinal and Bulbar Muscular Atrophy.