Abstract
A clinicopathological study of 2 families with familial amyotrophic lateral sclerosis
was previously reported [1]. The present study continues to investigate these families,
with detailed clinical, genetic, and neuropathological studies performed on 24 patients,
including 5 autopsy cases of the families. A point mutation at codon 106 (L106V) in
the copper/zinc superoxide dismutase-1 (SOD1) gene was identified in the families. Average age at onset was 52.0±9.4 years, and initial symptoms were weakness and atrophy in the distal muscles of the
lower extremities in most patients. Half of the patients showed neurogenic bladder
(overactive bladder) and sensory impairment. The neurophysiological study showed peripheral/central
conduction delay. Neuropathological examination revealed severe motor neuron loss
with many bizarre reactive astrocytes in the spinal anterior horn. SOD1-immunopositive
Lewy body-like hyaline inclusions and aggregation of neurofilaments were observed
in the surviving anterior horn cells. Degeneration of the corticospinal tract was
relatively minor. In addition, slight but diffuse gliosis was identified in the hypothalamus
and medial nucleus of thalamus. Neurogenic bladder, sensory impairment, and degeneration
of the hypothalamus and thalamus might be specific features in patients with familial
amyotrophic lateral sclerosis with L106V mutation in the SOD1 gene.
Keywords
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Article info
Publication history
Published online: May 30, 2012
Accepted:
May 4,
2012
Received:
February 24,
2012
Identification
Copyright
© 2012 Elsevier B.V. Published by Elsevier Inc. All rights reserved.
