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

Journal of the Neurological Sciences

Volumn 323, Issue 1-2, 2012, Pages 85-92

  Mochizuki, Yoko ^a   Isozaki, Eiji ^a   Takao, Masaki ^b   Hashimoto, Tomoyo ^c,d   Shibuya, Makoto ^a,e   Arai, Makoto ^c   Hosokawa, Masato ^c   Kawata, Akihito ^a   Oyanagi, Kiyomitsu ^c,d   Mihara, Ban ^b   Mizutani, Toshio ^a,f  

^a TOKYO METROPOLITAN NEUROLOGICAL HOSPITAL   (Japan)

^b Mihara Memorial Hospital   (Japan)

^c TOKYO METROPOLITAN INSTITUTE OF MEDICAL SCIENCE   (Japan)

^d SHINSHU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^e TOKYO MEDICAL UNIVERSITY   (Japan)

^f Fuchu Medical Center for the Disabled   (Japan)

Author keywords

Basophilic inclusion; Familial amyotrophic lateral sclerosis; Fused in sarcoma; Juvenile amyotrophic lateral sclerosis; Long survival; Multiple systems involvement; Totally locked in state

Indexed keywords

FUSED IN SARCOMA PROTEIN;

ADOLESCENT; ADULT; AMYOTROPHIC LATERAL SCLEROSIS; ARM WEAKNESS; ARTICLE; ARTIFICIAL VENTILATION; BASAL GANGLION; BULBAR PARALYSIS; CASE REPORT; CEREBELLUM; COMPARATIVE STUDY; DEGENERATION; DEVELOPMENTAL DISORDER; DISEASE COURSE; DYSARTHRIA; DYSPHAGIA; DYSPNEA; FAMILIAL DISEASE; FEMALE; FRONTAL LOBE; GENE MUTATION; GENETIC ASSOCIATION; HUMAN; HUMAN CELL; HUMAN TISSUE; JAPANESE; LIMB WEAKNESS; MULTIPLE ORGAN FAILURE; NEUROPATHOLOGY; OPHTHALMOPLEGIA; PNEUMONIA; POLYNEUROPATHY; PRIMARY MOTOR CORTEX; PRIORITY JOURNAL; QUADRIPLEGIA; RESPIRATORY FAILURE; SPINAL CORD ATROPHY; SUBSTANTIA NIGRA; TRACHEOSTOMY;

ADULT; AGE OF ONSET; AMYOTROPHIC LATERAL SCLEROSIS; ATROPHY; BRAIN; BULBAR PALSY, PROGRESSIVE; CORPUS STRIATUM; DISEASE PROGRESSION; FEMALE; FRONTAL LOBE; GLIOSIS; HUMANS; INCLUSION BODIES; MUTATION, MISSENSE; NERVE TISSUE PROTEINS; POINT MUTATION; QUADRIPLEGIA; RESPIRATION, ARTIFICIAL; RESPIRATORY INSUFFICIENCY; RNA-BINDING PROTEIN FUS; SPINAL CORD; STAINING AND LABELING;

EID: 84867892265     PISSN: 0022510X     EISSN: 18785883     Source Type: Journal    
DOI: 10.1016/j.jns.2012.08.016     Document Type: Article

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