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| Marques Jr.,W.; Davis,M.B.; Abou-Sleiman,P.M.; Marques,V.D.; Silva Jr.,W.A.; Zago,M.A.; Sobreira,C.S.; Barreira,A.A.. |
| The spinal muscular atrophies (SMA) or hereditary motor neuronopathies result from the continuous degeneration and death of spinal cord lower motor neurons, leading to progressive muscular weakness and atrophy. We describe a large Brazilian family exhibiting an extremely rare, late-onset, dominant, proximal, and progressive SMA accompanied by very unusual manifestations, such as an abnormal sweating pattern, and gastrointestinal and sexual dysfunctions, suggesting concomitant involvement of the autonomic nervous system. We propose a new disease category for this disorder, `hereditary motor and autonomic neuronopathy', and attribute the term, `survival of motor and autonomic neurons 1' (SMAN1) to the respective locus that was mapped to a 14.5 cM region on... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Spinal muscular atrophy; Hereditary motor neuronopathies; Autonomic neuropathies. |
| Ano: 2004 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2004001100022 |
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