Familial amyotrophic lateral sclerosis with posterior column degeneration and basophilic inclusion bodies: a clinical, genetic and pathological study.
We report an autopsy case of familial amyotrophic lateral sclerosis (FALS). The patient was a Japanese woman with hereditary burden. Family history revealed 12 patients with FALS over four generations. She developed muscle weakness of the proximal part of the upper extremities at age 42, followed by dysarthria, dysphagia, muscle weakness and atrophy in the lower extremities, spasticity, hyperreflexia and Babinski's sign. At age 44, she needed ventilatory support. At age 45, she died of bronchopneumonia. The total duration of the disease was three years and one month. Genetic study showed the absence of a mutation in the Cu/Zn superoxide dismutase-1 gene. Neuropathological examination revealed not only neuronal loss in the upper and lower motor neuron and Clarke's column, but also degeneration of the pyramidal tracts, middle root zone of the posterior column and posterior spinocerebellar tract. Bunina bodies and Lewy body-like inclusion bodies were absent. A few basophilic inclusion bodies were present in the neurons of the brain stem and anterior horn of the lumbar cord. Based on these clinical, genetic and pathological findings with a review of the literature, we concluded that our case was the first reported case of FALS with posterior column involvement and basophilic inclusion bodies.
Tsuchiya
K
K
Department of Laboratory Medicine and Pathology, Metropolitan Matsuzawa Hospital, Tokyo, Japan. ktsuchi@dd.mbn.or.jp
Matsunaga
T
T
Aoki
M
M
Haga
C
C
Ooe
K
K
Abe
K
K
Ikeda
K
K
Nakano
I
I
D000328:Adult; D004252:DNA Mutational Analysis; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D002479:Inclusion Bodies / Q000473:pathology*; D008875:Middle Aged; D016472:Motor Neuron Disease / Q000235:genetics* / Q000473:pathology; D009410:Nerve Degeneration / Q000235:genetics* / Q000473:pathology; D009474:Neurons / Q000473:pathology; D010375:Pedigree; D020671:Posterior Horn Cells / Q000473:pathology*; D011712:Pyramidal Tracts / Q000473:pathology*; D013126:Spinal Nerve Roots / Q000473:pathology*; D020824:Spinocerebellar Tracts / Q000473:pathology*; D013482:Superoxide Dismutase / Q000235:genetics
D013482:Superoxide Dismutase