Clinical and genetic analysis of Taiwanese patients with hereditary spastic paraplegia type 5

European Journal of Neurology

Volumn 22, Issue 1, 2015, Pages 211-214

  Lan, M Y ^a   Yeh, TsH ^a,b   Chang, Y Y ^a   Kuo, H C ^b   Sun, H S ^c   Lai, S C ^b   Lu, C S ^a,b  

^a CHANG GUNG UNIVERSITY COLLEGE OF MEDICINE   (Taiwan)

^b CHANG GUNG MEMORIAL HOSPITAL   (Taiwan)

^c NATIONAL CHENG KUNG UNIVERSITY   (Taiwan)

Author keywords

Carrier; CYP7B1; Hereditary spastic paraplegias; Mutation; SPG5

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CEREBELLAR ATAXIA; CLINICAL ARTICLE; CLINICAL ASSESSMENT; CLINICAL FEATURE; COHORT ANALYSIS; CONTROLLED STUDY; CYTOCHROME P450 OXYSTEROL 7ALPHA HYDROXYLASE GENE; FEMALE; FOUNDER EFFECT; GENE; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC SCREENING; HAN CHINESE; HAPLOTYPE; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MALE; MIDDLE AGED; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; PATIENT INFORMATION; PHENOTYPE; PRIORITY JOURNAL; SENSORY DYSFUNCTION; SPASTIC PARAPLEGIA TYPE 5 GENE; SPINAL CORD ATROPHY; TAIWANESE; YOUNG ADULT; GENETICS; MUTATION; PATHOLOGY; PATHOPHYSIOLOGY; PEDIGREE; TAIWAN;

CYP7B1 PROTEIN, HUMAN; STEROID MONOOXYGENASE;

ADOLESCENT; ADULT; CEREBELLAR ATAXIA; FEMALE; FOUNDER EFFECT; HAPLOTYPES; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; MUTATION; PEDIGREE; PHENOTYPE; SPASTIC PARAPLEGIA, HEREDITARY; STEROID HYDROXYLASES; TAIWAN; YOUNG ADULT;

EID: 84923018241     PISSN: 13515101     EISSN: 14681331     Source Type: Journal    
DOI: 10.1111/ene.12407     Document Type: Article

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