An autopsy case of adult-onset hereditary spastic paraplegia type 2 with a novel mutation in exon 7 of the proteolipid protein 1 gene

Acta Neuropathologica

Volumn 122, Issue 6, 2011, Pages 775-781

  Suzuki, Satoshi O ^a   Iwaki, Toru ^a   Arakawa, Kenji ^b   Furuya, Hirokazu ^b   Fujii, Naoki ^b   Iwaki, Akiko ^c  

^a KYUSHU UNIVERSITY   (Japan)

^b Omuta National Hospital   (Japan)

^c KYUSHU UNIVERSITY   (Japan)

Author keywords

Adult onset; Gene mutation; Hereditary spastic paraplegia; Proteolipid protein 1; SPG2

Indexed keywords

PROTEOLIPID PROTEIN; PROTEOLIPID PROTEIN 1; UNCLASSIFIED DRUG;

ADULT ONSET HEREDITARY MOTOR SENSORY NEUROPATHY TYPE 2; AGED; AMINO ACID SUBSTITUTION; ARTICLE; AUTOPSY; BRAIN ATROPHY; CASE REPORT; CENTRAL NERVOUS SYSTEM; COMPUTER ASSISTED TOMOGRAPHY; DEMENTIA; DEMYELINATION; EXON; GENE; GENETIC ANALYSIS; HEREDITARY MOTOR SENSORY NEUROPATHY; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; MALE; MISSENSE MUTATION; NERVE FIBER DEGENERATION; ONSET AGE; PATHOGENESIS; PRIORITY JOURNAL; PROTEOLIPID PROTEIN 1 GENE; WHITE MATTER;

AGED; AUTOPSY; CENTRAL NERVOUS SYSTEM; EXONS; HUMANS; MALE; MUTATION, MISSENSE; MYELIN PROTEOLIPID PROTEIN; MYELIN SHEATH; OLIGODENDROGLIA; SPASTIC PARAPLEGIA, HEREDITARY;

EID: 82355190033     PISSN: 00016322     EISSN: 14320533     Source Type: Journal    
DOI: 10.1007/s00401-011-0916-x     Document Type: Article

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