Expanding the phenotypes of the Pro56Ser VAPB mutation: Proximal SMA with dysautonomia

The phenotype of 16 members of a family affected by a late‐onset, dominant, progressive, motor and autonomic disorder is described. The VAPB (Pro56Ser) mutation was detected in Brazilian families with different phenotypes of motor neuron disorders. In this family, proximal and axial muscle weakness...

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Bibliographic Details
Published in:Muscle & nerve 2006-12, Vol.34 (6), p.731-739
Main Authors: Marques, Vanessa D., Barreira, Amilton A., Davis, Mary B., Abou-Sleiman, Patrick M., Silva Jr, Wilson A., Zago, Marco A., Sobreira, Claudia, Fazan, Valéria, Marques Jr, Wilson
Format: Article
Language:English
Subjects:
Adult
Autonomic Nervous System Diseases - complications
Autonomic Nervous System Diseases - diagnosis
Autonomic Nervous System Diseases - genetics
Biological and medical sciences
Brazil
Dermatology
Diseases of striated muscles. Neuromuscular diseases
dysautonomia
Electromyography
Female
Humans
Male
Medical sciences
Middle Aged
motor neuron disorder
Muscular Atrophy, Spinal - complications
Muscular Atrophy, Spinal - diagnosis
Muscular Atrophy, Spinal - genetics
Mutation
Neurology
Pedigree
Phenotype
Proline - chemistry
Proline - genetics
Serine - chemistry
Serine - genetics
spinal muscular atrophy
Tumors of the skin and soft tissue. Premalignant lesions
VAPB gene
Vesicular Transport Proteins - genetics
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Summary:The phenotype of 16 members of a family affected by a late‐onset, dominant, progressive, motor and autonomic disorder is described. The VAPB (Pro56Ser) mutation was detected in Brazilian families with different phenotypes of motor neuron disorders. In this family, proximal and axial muscle weakness and atrophy, associated with abdominal protrusion, defined the motor phenotype. Death occurred in 10–15 years due to respiratory insufficiency. Tone and tendon reflexes were decreased and a distal tremor was common. Sensation was preserved. Autonomic abnormalities were also present, including choking, chronic intestinal constipation, sexual dysfunction, and sudomotor abnormalities, and on nerve morphology there was involvement of unmyelinated fibers. Electromyography disclosed ongoing denervation and reinnervation. Isolated dysfunction of motor and autonomic neurons is unusual among the spinal muscular atrophies. On this basis, this condition seems to represent a new category of disease. Muscle Nerve, 2006
ISSN:0148-639X
1097-4598
DOI:10.1002/mus.20657