Abstract
The presence of frontotemporal lobar degeneration with TDP-43-positive inclusions
(FTLD-TDP) showing corticospinal tract (CST) degeneration but lacking lower motor
neuron (LMN) loss has been reported, and the term primary lateral sclerosis (PLS)
is used to distinguish motor neuron disease (MND) of these cases from amyotrophic
lateral sclerosis (ALS). To date, however, details of clinicopathological findings
of FTLD-MND-PLS type (FTLD-MND-P) have not been reported. We evaluated medical records
and histopathological findings of ten cases of FTLD-MND-P, in comparison with those
of six FTLD-MND-ALS type (FTLD-MND-A) cases. The mean age at onset and disease duration
of FTLD-MND-P cases were 54 and 12 years, respectively. The first symptoms were frontotemporal dementia showing behavioral
abnormality and/or personality change in five cases, semantic dementia in three cases,
progressive non-fluent aphasia in one case, and auditory hallucination in one case.
Upper motor neuron signs were clinically identified in six of the ten cases. There
were no LMN signs throughout the clinical course in any case. Histopathologically,
there was no obvious LMN loss or Bunina bodies in the hypoglossal nucleus or spinal
cord in any case, whereas the CST was involved in all cases. The cerebral cortex of
the six cases showed type 1 of TDP-43 histology defined by Cairns et al., whereas
three cases showed type 3 histology, and one case showed type 2 histology. In all
cases, TDP-43 positive neuronal cytoplasmic inclusions were absent or rare in the
LMNs, while TDP-43 positive round structures were frequently identified in the neuropil
of the spinal cord anterior horn in some cases. This study clarified that FTLD-MND-P
cases have characteristic clinicopathological features distinct from those of FTLD-MND-A.
Keywords
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Article info
Publication history
Published online: September 02, 2010
Accepted:
August 6,
2010
Received in revised form:
July 30,
2010
Received:
June 1,
2010
Identification
Copyright
© 2010 Elsevier B.V. Published by Elsevier Inc. All rights reserved.
