Spinal muscular atrophy type 2 patient who survived 61 years: an autopsy case report

Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease characterized by progressive muscle weakness due to degeneration of lower motor neurons in the anterior horn of the spinal cord. We analyzed autopsy findings of a male patient with SMA type 2 who survived until 61 years of...

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Bibliographic Details
Published in:Neuropathology 2022-04, Vol.42 (2), p.141-146
Main Authors: Yamadera, Misaki, Saito, Toshio, Shinohara, Masakazu, Nishio, Hisahide, Murayama, Shigeo, Fujimura, Harutoshi
Format: Article
Language:English
Subjects:
Autopsies
Autopsy
Case reports
Degeneration
Frontal lobe
Gene deletion
Genetic analysis
heterotopic neuron
Homozygote
Humans
hybrid SMN gene
Male
microdysgenesis
migration disturbance
Motor neurons
Muscular Atrophy, Spinal - genetics
Nervous system
Neuromuscular diseases
Neurons
Sequence Deletion
SMN protein
Spinal cord
Spinal Muscular Atrophies of Childhood - genetics
Spinal muscular atrophy
Substantia alba
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Summary:Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease characterized by progressive muscle weakness due to degeneration of lower motor neurons in the anterior horn of the spinal cord. We analyzed autopsy findings of a male patient with SMA type 2 who survived until 61 years of age. Genetic analysis revealed a homozygous deletion of the survival motor neuron (SMN) gene 1 (SMN1) exon 7, confirming the diagnosis of SMA. Results of further analyses indicated that the patient had two copies of the genuine SMN gene 2 (SMN2) and one copy of a hybrid gene containing SMN2 exon 7 and SMN1 exon 8. Pathological examination revealed moderate neuronal loss of the anterior horn and appearance of heterotopic neurons in the lateral funiculus, whereas a few achromatic neurons were notably localized in the anterior horn of the lumbar segment. Microdysgenesis as a consequence of migration disturbance was found in the white matter of the frontal lobe, postulating the possibility of the maldevelopment of the nervous system.
ISSN:0919-6544
1440-1789
DOI:10.1111/neup.12784