Spinal muscular atrophy type III complicated by spinal superficial siderosis: a case report with molecular and neuropathological findings

Spinal muscular atrophy type III complicated by spinal superficial siderosis: a case report with molecular and neuropathological findings

Abstract Spinal muscular atrophy (SMA) is largely linked to deletion or mutation of the Survival motor neuron 1 (SMN1) gene located on chromosome 5q13. Type III (Kugelberg–Welander disease) is the mildest childhood form and patients may become ambulatory and have a normal life expectancy. We report...

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Bibliographic Details
Main Authors: Catherine Elizabeth Pringle, Robert Nelson, Willie Miller, Rashmi Kothary, Jean Michaud
Format: Article
Language:English
Published: BMC 2020-11-01
Series:Acta Neuropathologica Communications
Subjects:
Spinal muscular atrophy type III
Superficial siderosis
Sensory symptoms
Radiculo-myelo-neuropathy
Neuropathology
Scoliosis
Online Access:http://link.springer.com/article/10.1186/s40478-020-01063-9

Internet

http://link.springer.com/article/10.1186/s40478-020-01063-9

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