Premium
Expanding the phenotypes of the Pro56Ser VAPB mutation: Proximal SMA with dysautonomia
Author(s) -
Marques Vanessa D.,
Barreira Amilton A.,
Davis Mary B.,
AbouSleiman Patrick M.,
Silva Wilson A.,
Zago Marco A.,
Sobreira Claudia,
Fazan Valéria,
Marques Wilson
Publication year - 2006
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.20657
Subject(s) - sudomotor , dysautonomia , medicine , sma* , spinal muscular atrophy , reinnervation , motor neuron , atrophy , neuroscience , pathology , anatomy , psychology , disease , combinatorics , mathematics
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