Polysomnographic and neurometabolic features may mark preclinical autosomal dominant cerebellar ataxia, deafness, and narcolepsy due to a mutation in the DNA (cytosine-5-)-methyltransferase gene, DNMT1

Sleep Medicine

Volumn 15, Issue 5, 2014, Pages 582-585

  Moghadam, Keivan Kaveh ^a   Pizza, Fabio ^a,b   Tonon, Caterina ^a   Lodi, Raffaele ^a   Carelli, Valerio ^a,b   Poli, Francesca ^a,b   Franceschini, Christian ^c   Barboni, Piero ^d   Seri, Marco ^a   Ferrari, Simona ^a   La Morgia, Chiara ^a,b   Testa, Claudia ^a   Cornelio, Ferdinando ^e   Liguori, Rocco ^a,b   Winkelmann, Juliane ^f,g   Lin, Ling ^g   Mignot, Emmanuel ^g   Plazzi, Giuseppe ^a,b  

^a UNIVERSITY OF BOLOGNA   (Italy)

^b IRCCS ISTITUTO DELLE SCIENZE NEUROLOGICHE DI BOLOGNA   (Italy)

^c UNIVERSITY OF PARMA   (Italy)

^d Studio Oculistico d'Azeglio   (Italy)

^e DEPARTMENT OF NEUROSURGERY   (Italy)

^f TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^g STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

ADCA DN; DNMT1; Genetic; MR spectroscopy; MSLT; Narcolepsy; Neurodegeneration

Indexed keywords

DNA METHYLTRANSFERASE 1; INOSITOL; DNA (CYTOSINE 5) METHYLTRANSFERASE; DNA (CYTOSINE-5-)-METHYLTRANSFERASE 1;

ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; CEREBELLAR ATAXIA; CLINICAL ASSESSMENT; DNMT1 GENE; FEMALE; GENE MUTATION; GENETIC ASSOCIATION; GENETIC SCREENING; HEARING IMPAIRMENT; HETEROZYGOSITY; HUMAN; MALE; MEDICAL HISTORY; NARCOLEPSY; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; POINT MUTATION; PRIORITY JOURNAL; PROTON NUCLEAR MAGNETIC RESONANCE; REM SLEEP; ADOLESCENT; AGED; ASYMPTOMATIC DISEASE; BRAIN; CEREBELLUM; CHEMISTRY; COMPLICATION; GENETICS; MIDDLE AGED; MUTATION; PATHOLOGY; PATHOPHYSIOLOGY; PEDIGREE; PHYSIOLOGY; POLYSOMNOGRAPHY; SLEEP; VERY ELDERLY; YOUNG ADULT;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; ASYMPTOMATIC DISEASES; BRAIN; CEREBELLAR ATAXIA; CEREBELLUM; DEAFNESS; DNA (CYTOSINE-5-)-METHYLTRANSFERASE; FEMALE; HUMANS; INOSITOL; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; MUTATION; NARCOLEPSY; NEUROIMAGING; PEDIGREE; POLYSOMNOGRAPHY; PROTON MAGNETIC RESONANCE SPECTROSCOPY; SLEEP; YOUNG ADULT;

EID: 84899999845     PISSN: 13899457     EISSN: 18785506     Source Type: Journal    
DOI: 10.1016/j.sleep.2013.09.028     Document Type: Article

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