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- W1485048918 abstract "OBJECTIVE: To describe novel histopathology in a case of familial amyotrophic lateral sclerosis (fALS) which lacks the usual TDP43 immunopathology and is negative for mutations in TDP, FUS, GRN, SOD1, or C9ORF72.BACKGROUND: Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder characterized by TDP43 immunopositive neuronal inclusions in upper and lower motor neurons. Some genetic forms of fALS have predictable pathology.DESIGN/METHODS: We present the clinical and pathologic features of a case of fALS with unique autopsy findings.RESULTS: A 42 year old man with a family history of ALS in a brother and a paternal uncle developed unilateral proximal leg weakness. When he was assessed three months later he had developed bilateral proximal arm weakness and fasciculations. He then developed leg cramps, dysarthria and dysphagia and he lacked ataxia or cognitive symptoms. Physical examination and neurophysiological studies were consistent with a diagnosis of ALS. The patient had a rapid course and died seven months after symptom onset. At autopsy there was marked selective neuronal loss from the motor cranial nerve nuclei and anterior horns with numerous axonal spheroids, as well as degeneration of the corticospinal and spinocerebellar tracts. Some remaining motor neurons contained cytoplasmic inclusions which varied from Lewy body-like to thick basophilic cords in the cell body and axon. These inclusions were p62 immunopositive but negative for all other markers employed, including TDP43, FUS, NF, internexin, SMI31, tau, polyglutamine and alpha-synuclein. Often these p62 immunopositive inclusions were at the core of an axonal spheroid, surrounded by NF immunopositive axoplasm. The motor cortex, dorsal columns, and cerebellum were normal, and there was no associated FTLD. Genetic studies showed no mutations in TDP, FUS, GRN, SOD1, or C9ORF72.CONCLUSIONS: We describe novel pathological findings in a clinically well-delineated case of fALS. The remarkable features include p62 immunopositive inclusions within neuronal nuclei and axonal spheroids that fail to label with known ALS related proteins. Disclosure: Dr. Schneider has nothing to disclose. Dr. Diamandis has nothing to disclose. Dr. Zinman has nothing to disclose. Dr. Rogaeva has nothing to disclose. Dr. Robertson has nothing to disclose. Dr. Keith has nothing to disclose." @default.
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- W1485048918 date "2014-04-08" @default.
- W1485048918 modified "2023-09-29" @default.
- W1485048918 title "Familial Amyotrophic Lateral Sclerosis with Novel p62 Immunopositive Intra-Neuronal Nuclear and Axonal Spheroid Inclusions (P1.052)" @default.
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