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Unexpected postmortem diagnoses in cases of clinically diagnosed amyotrophic lateral sclerosis
Author(s) -
Riku Yuichi,
Yoshida Mari,
Tamura Takuya,
Kamijo Mikiko,
Yasui Keizo,
Kameyama Takashi,
Katsuno Masahisa,
Sobue Gen,
Iwasaki Yasushi
Publication year - 2021
Publication title -
neuropathology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.701
H-Index - 61
eISSN - 1440-1789
pISSN - 0919-6544
DOI - 10.1111/neup.12744
Subject(s) - amyotrophic lateral sclerosis , medicine , pathological , motor neuron , lower motor neuron , dysautonomia , disease , upper motor neuron , pathology , autopsy , progressive muscular atrophy , amyloidosis
Amyotrophic lateral sclerosis (ALS) is a motor neuron disease that is clinically and pathologically characterized by impairment of the upper and lower motor neurons. The clinical diagnosis of ALS is not always straightforward because of the lack of specific biomarkers and clinical heterogeneity. This review presents the clinical and pathological findings of four autopsied cases that had been diagnosed with ALS before death. These cases had demonstrated definite and progressive motor neuron signs and symptoms, whereas postmortem assessment revealed miscellaneous disorders, including fungal infection, paraneoplastic syndrome, and amyloidosis. Importantly, nonmotor neuron signs and symptoms, including seizures, extra‐pyramidal signs, ocular movement disorders, sensory disturbance, and dysautonomia, had also been documented during the disease course of the cases in the present study. The ALS‐unlike symptoms were indicative of the “true” diagnosis in each case when those symptoms were isolated from motor neuron signs/symptoms.