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...
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: | |
Online Access: | http://link.springer.com/article/10.1186/s40478-020-01063-9 |
Similar Items
-
Quantitative measurement of cortical superficial siderosis in cerebral amyloid angiopathy
by: T.W. van Harten, et al.
Published: (2023-01-01) -
Case Report: Dural Dissection With Ventral Spinal Fluid-Filled Collection in Superficial Siderosis: Insights Into the Pathology From Anterior-Approached Surgical Cases
by: Toshitaka Yoshii, et al.
Published: (2022-07-01) -
Spinal muscular atrophy with severe scoliosis: a case report
by: Dikahayu Alifia Anugrah, et al.
Published: (2023-08-01) -
Case report: Ocular signs of superficial siderosis; a rare neurodegenerative disorder
by: James Corbett, et al.
Published: (2023-09-01) -
Early Development of Spinal Deformities in Children Severely Affected with Spinal Muscular Atrophy after Gene Therapy with Onasemnogene Abeparvovec—Preliminary Results
by: Venla Soini, et al.
Published: (2023-06-01)