Format

Send to

Choose Destination
See comment in PubMed Commons below
J Neurol Sci. 2012 Dec 15;323(1-2):85-92. doi: 10.1016/j.jns.2012.08.016. Epub 2012 Sep 11.

Familial ALS with FUS P525L mutation: two Japanese sisters with multiple systems involvement.

Author information

1
Department of Pathology, Tokyo Metropolitan Neurological Hospital, Tokyo 183-0042, Japan. mochi@nihon-u.ne.jp

Abstract

We evaluated the clinicopathological features of familial amyotrophic lateral sclerosis (ALS) with the fused in sarcoma (FUS) P525L mutation. Two sisters and their mother had a similar clinical course, which was characterized by the development of limb weakness at a young age with rapid disease progression. An elder sister, patient 1, progressed into a totally locked-in state requiring mechanical ventilation and died 26 years after the onset of the disease. In contrast, the younger sister, patient 2, died in the early stages of the disease. The patients had neuropathological findings that indicated a very active degeneration of motor neurons and multiple system degeneration, which led to marked brain and spinal cord atrophy in the long term clinical outcome. The multiple system degeneration included the frontal lobe, the basal ganglia and substantia nigra, cerebellum and related area. Compared with previously reported ALS cases, the severe degeneration of the frontal lobe and the striatum were the characteristic features in the patient 1 in this case study. The degeneration spread over multiple systems might be caused not only by the appearance of the FUS immunoreactive neuronal cytoplasmic inclusions but also by the degeneration of neuronal connections from the primary motor cortex and related areas.

PMID:
22980027
DOI:
10.1016/j.jns.2012.08.016
[Indexed for MEDLINE]
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Elsevier Science
    Loading ...
    Support Center