Hereditary spastic paraplegia type 5: A potentially treatable disorder of cholesterol metabolism

Journal of Neurology

Volumn 261, Issue 3, 2014, Pages 617-619

  Mignarri, Andrea ^a   Malandrini, Alessandro ^a   Del Puppo, Marina ^b   Magni, Alessandro ^b   Monti, Lucia ^c   Ginanneschi, Federica ^a   Tessa, Alessandra ^d   Santorelli, Filippo Maria ^d   Federico, Antonio ^a   Dotti, Maria Teresa ^a  

^a UNIVERSITY OF SIENA   (Italy)

^b UNIVERSITY OF MILANO BICOCCA   (Italy)

^c UNIVERSITY HOSPITAL OF SIENA   (Italy)

^d DEPARTMENT OF DEVELOPMENTAL NEUROSCIENCE   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

CHOLESTEROL; HYDROXYMETHYLGLUTARYL COENZYME A REDUCTASE INHIBITOR; SIMVASTATIN; 27-HYDROXYCHOLESTEROL; CHOLESTEROL DERIVATIVE; CYP7B1 PROTEIN, HUMAN; HYPOCHOLESTEROLEMIC AGENT; STEROID MONOOXYGENASE;

ADULT; ANAMNESIS; BLOOD CHEMISTRY; CASE REPORT; CLINICAL EVALUATION; DISEASE DURATION; DISORDERS OF CHOLESTEROL METABOLISM; DRUG WITHDRAWAL; ELECTROMYOGRAPHY; EVOKED MUSCLE RESPONSE; FEMALE; FOLLOW UP; GAIT DISORDER; GENE MUTATION; GENETIC ANALYSIS; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; HYPERCHOLESTEROLEMIA; LABORATORY TEST; LETTER; MALE; MUSCLE CRAMP; NEUROIMAGING; NEUROLOGIC EXAMINATION; NEUROPSYCHOLOGICAL TEST; NEWBORN JAUNDICE; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; PROTON NUCLEAR MAGNETIC RESONANCE; SPASTIC PARAPLEGIA TYPE 5; SPINAL CORD; TREATMENT RESPONSE; WALKING DIFFICULTY; YOUNG ADULT; BLOOD; DIAGNOSTIC USE; GENETICS; MUTATION; SPASTIC PARAPLEGIA, HEREDITARY; TREATMENT OUTCOME;

ADULT; ANTICHOLESTEREMIC AGENTS; FEMALE; HUMANS; HYDROXYCHOLESTEROLS; MALE; MUTATION; SIMVASTATIN; SPASTIC PARAPLEGIA, HEREDITARY; STEROID HYDROXYLASES; TREATMENT OUTCOME; YOUNG ADULT;

EID: 84896494431     PISSN: 03405354     EISSN: 14321459     Source Type: Journal    
DOI: 10.1007/s00415-014-7253-7     Document Type: Letter

References (10)

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