Amyotrophic lateral sclerosis with a heterozygous D91A SOD1 variant and classical ALS-TDP neuropathology
SOD1 mutations are a frequent cause of autosomal dominant familial amyotrophic lateral sclerosis (fALS).1 The D91A SOD1 variant is unique in its association with an atypical form of autosomal recessive fALS in Scandinavia. ALS has also been described in heterozygous D91A carriers,2 but it remains un...
| Main Authors: | , , , |
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| Format: | Journal article |
| Language: | English |
| Published: |
American Academy of Neurology
2020
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