SOD1 p.D12Y variant is associated with amyotrophic lateral sclerosis/distal myopathy spectrum.
Eur J Neurol
; 27(7): 1304-1309, 2020 07.
Article
em En
| MEDLINE
| ID: mdl-32250500
ABSTRACT
BACKGROUND AND PURPOSE:
The aim of our study was to describe patients with the p.D12Y variant (previously reported as D11Y) in SOD1 showing heterogeneous clinicopathological features.METHODS:
We performed clinical, electrophysiological, magnetic resonance imaging (MRI) and muscle pathology studies in four SOD1 p.D12Y variant-positive patients.RESULTS:
The SOD1 p.D12Y clinical manifestations ranged from a benign phenotype characterized by distal distribution of muscular weakness and long survival to classic forms of amyotrophic lateral sclerosis with poor prognosis. Two patients with the distal clinical phenotype showed MRI and muscle pathology alterations indicating a concurrent muscle involvement. In one of these patients significant myopathic changes were associated with rimmed vacuolar pathology.CONCLUSIONS:
We expand the clinical spectrum of SOD1 p.D12Y variant, including predominant lower motor neuron forms with long survival and classic forms with aggressive course. Some patients may have concomitant distal myopathy without other explanations. Given clinical, MRI and muscle pathology alterations, SOD1 should be considered in the differential diagnosis of molecularly undefined distal myopathies with rimmed vacuoles.Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Miopatias Distais
/
Esclerose Lateral Amiotrófica
Tipo de estudo:
Risk_factors_studies
Limite:
Humans
Idioma:
En
Ano de publicação:
2020
Tipo de documento:
Article