Hereditary spastic paraplegia with cerebellar ataxia: A complex phenotype associated with a new SPG4 gene mutation

European Journal of Neurology

Volumn 11, Issue 12, 2004, Pages 817-824

  Nielsen, Jørgen E ^a   Johnsen, B ^b   Koefoed, P ^a   Scheuer, K H ^a   Gronbech Jensen M ^a   Law, I ^a   Krabbe, K ^a   Norremolle A ^a   Eiberg, H ^a   Sondergard H ^a   Dam, M ^b   Rehfeld, J F ^a   Krarup, C ^a   Paulson, O B ^a   Hasholt, L ^a   Sorensen S A ^a  

^a UNIVERSITY OF COPENHAGEN   (Denmark)

^b AARHUS UNIVERSITY HOSPITAL   (Denmark)

Author keywords

Ataxia; Complex HSP; Hereditary spastic paraplegia; PET; SPG4

Indexed keywords

SPASTIN;

ADULT; AGED; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; BRAIN BLOOD FLOW; CEREBELLAR ATAXIA; CHROMOSOME 2P; CLINICAL ARTICLE; COGNITIVE DEFECT; DYSARTHRIA; EPILEPSY; EVOKED SOMATOSENSORY RESPONSE; FEMALE; GENE; GENE MUTATION; GENE SEQUENCE; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; LINKAGE ANALYSIS; MAJOR DEPRESSION; MALE; MIGRAINE; NEUROPSYCHOLOGICAL TEST; NUCLEAR MAGNETIC RESONANCE IMAGING; ONSET AGE; PEDIGREE; PHENOTYPE; POSITRON EMISSION TOMOGRAPHY; PRIORITY JOURNAL; SPG4 GENE;

ADENOSINE TRIPHOSPHATASES; ADULT; BRAIN MAPPING; CASE-CONTROL STUDIES; CEREBELLAR ATAXIA; COGNITION; CYSTEINE; DNA MUTATIONAL ANALYSIS; ELECTROENCEPHALOGRAPHY; ELECTROMYOGRAPHY; EVOKED POTENTIALS; FAMILY HEALTH; FEMALE; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; MUTATION; NEURAL CONDUCTION; NEUROPSYCHOLOGICAL TESTS; PHENOTYPE; POSITRON-EMISSION TOMOGRAPHY; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA, MESSENGER; SPASTIC PARAPLEGIA, HEREDITARY; THREONINE;

EID: 10844278272     PISSN: 13515101     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1468-1331.2004.00888.x     Document Type: Article

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