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Severe brain involvement in 5q spinal muscular atrophy type 0
Author(s) -
Mendonça Rodrigo H.,
Rocha Antônio J.,
LozanoArango Andres,
Diaz Astry B.,
Castiglioni Claudia,
Silva André M. S.,
Reed Umbertina C.,
Kulikowski Leslie,
Paramonov Ida,
Cuscó Ivon,
Tizzano Eduardo F.,
Zanoteli Edmar
Publication year - 2019
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.25549
Subject(s) - spinal muscular atrophy , medicine , atrophy , physical medicine and rehabilitation , progressive muscular atrophy , neuroscience , anatomy , pathology , psychology , amyotrophic lateral sclerosis , disease
Spinal muscular atrophy (SMA) type 0 is the most severe form of SMA, associated with the SMN1 gene and manifesting at birth. Most patients die in the first weeks of life. In this work, we present 3 patients with SMA type 0 who survived >1 year and presented diffuse and progressive brain abnormalities on magnetic resonance imaging, which are not usually seen in patients with SMA. Thus, severe brain involvement may likely be the full end manifestation of an already extreme SMA phenotype caused by substantial reduction of the SMN protein in the brain. ANN NEUROL 2019;86:458–462