Autosomal-recessive complicated spastic paraplegia with a novel lysosomal trafficking regulator gene mutation

Journal of Neurology, Neurosurgery and Psychiatry

Volumn 85, Issue 9, 2014, Pages 1024-1028

  Shimazaki, Haruo ^a   Honda, Junko ^a   Naoi, Tametou ^a   Namekawa, Michito ^a   Nakano, Imaharu ^b   Yazaki, Masahide ^c   Nakamura, Katsuya ^c   Yoshida, Kunihiro ^c   Ikeda, Shu Ichi ^c   Ishiura, Hiroyuki ^d   Fukuda, Yoko ^d   Takahashi, Yuji ^d   Goto, Jun ^d   Tsuji, Shoji ^d   Takiyama, Yoshihisa ^e  

^a JICHI MEDICAL UNIVERSITY   (Japan)

^b TOKYO METROPOLITAN NEUROLOGICAL HOSPITAL   (Japan)

^c SHINSHU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^d UNIVERSITY OF TOKYO   (Japan)

^e UNIVERSITY OF YAMANASHI   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; PEROXIDASE;

ADULT; ARTICLE; BLOOD ANALYSIS; CASE REPORT; CEREBELLAR ATAXIA; CEREBELLUM ATROPHY; CHEDIAK HIGASHI SYNDROME; ELECTROMYOGRAM; GAIT DISORDER; GENE; GENE SEGREGATION; GENE SEQUENCE; GRANULOCYTE; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; JAPANESE (PEOPLE); LIMB WEAKNESS; LINKAGE ANALYSIS; LYST GENE; MALE; MIDDLE AGED; MINI MENTAL STATE EXAMINATION; MISSENSE MUTATION; MUSCLE ATROPHY; MUSCLE WEAKNESS; NATURAL KILLER CELL; NERVE BIOPSY; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PERIPHERAL NEUROPATHY; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; SPASTIC PARAPLEGIA; SPINAL CORD ATROPHY; WALKING DIFFICULTY;

CEREBELLAR ATAXIA; NEUROGENETICS; NEUROPATHY; SPASTICITY;

ASIAN CONTINENTAL ANCESTRY GROUP; CEREBELLAR ATAXIA; CHEDIAK-HIGASHI SYNDROME; GENETIC LINKAGE; GENETIC PREDISPOSITION TO DISEASE; GENOME-WIDE ASSOCIATION STUDY; HUMANS; MALE; MIDDLE AGED; MUTATION, MISSENSE; POLYMORPHISM, SINGLE NUCLEOTIDE; SPASTIC PARAPLEGIA, HEREDITARY; VESICULAR TRANSPORT PROTEINS;

EID: 84905590433     PISSN: 00223050     EISSN: 1468330X     Source Type: Journal    
DOI: 10.1136/jnnp-2013-306981     Document Type: Article

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