Novel SPG10 mutation associated with dysautonomia, spinal cord atrophy, and skin biopsy abnormality

European Journal of Neurology

Volumn 20, Issue 2, 2013, Pages 398-401

  Collongues, N ^a   Depienne, C ^b,c   Boehm, N ^a,d   Echaniz Laguna, A ^a   Samama, B ^a,d   Durr A ^b,c   Stevanin, G ^b,c   Leguern, E ^b,c   Brice, A ^b,c   Labauge, P ^e   De Seze, J ^a  

^a UNIVERSITÉ DE STRASBOURG   (France)

^b PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^c INSTITUT DU CERVEAU ET DE LA MOELLE ÉPINIÈRE   (France)

^d INSERM   (France)

^e UNIV MONTPELLIER   (France)

Author keywords

Dysautonomia; KIF5A SPG10; Skin biopsy; Spastic paraplegia; Spinal cord atrophy

Indexed keywords

KIF5A PROTEIN; KINESIN; SYNAPTOPHYSIN; UNCLASSIFIED DRUG;

ARTICLE; CLINICAL ARTICLE; DEMYELINATION; DISEASE SEVERITY; DYSAUTONOMIA; EXON; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; HUMAN TISSUE; MISSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; POLYNEUROPATHY; PRESYNAPTIC MEMBRANE; PRIORITY JOURNAL; SKIN BIOPSY; SKIN DEFECT; SPASTICITY; SPINAL CORD ATROPHY; WALKING;

ADULT; ATROPHY; BIOPSY; CEREBRAL CORTEX; DEMYELINATING DISEASES; FEMALE; HUMANS; KINESIN; MALE; PEDIGREE; PHENOTYPE; POLYNEUROPATHIES; PRIMARY DYSAUTONOMIAS; SKIN; SPASTIC PARAPLEGIA, HEREDITARY; SPINAL CORD; SYNAPTIC VESICLES; SYNAPTOPHYSIN;

EID: 84872387309     PISSN: 13515101     EISSN: 14681331     Source Type: Journal    
DOI: 10.1111/j.1468-1331.2012.03803.x     Document Type: Article

References (8)

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