Abstract | OBJECTIVE: METHODS: Clinical assessment based on history, neurologic examination, sleep recordings, neurophysiologic neuroimaging, and genetic tests was performed. RESULTS: History and neurologic examination in both subjects were unremarkable. Genetic analysis disclosed in both the paternally-inherited heterozygous point mutation in the DNMT1 gene. Sleep recordings found sleep-onset rapid eye movement periods (SOREMPs) and proton magnetic resonance spectroscopy (MRS) revealed increased cerebellar myoinositol (mI) in both subjects. Auditory and ophthalmologic investigations as well as structural brain magnetic resonance imaging (MRI) scans revealed no abnormalities. CONCLUSIONS: The two asymptomatic carriers of the heterozygous DNMT1 mutation for ADCA-DN, a late-onset neurodegenerative disease, presented with SOREMPs associated with an increase of mI in the brain, a marker of glial cell activity and density characteristic of early stages of neurodegenerative diseases. Therefore, SOREMPs may precede the clinical picture of ADCA-DN as an early polysomnographic marker of central nervous system involvement detected by MRS.
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Authors | Keivan Kaveh Moghadam, Fabio Pizza, Caterina Tonon, Raffaele Lodi, Valerio Carelli, Francesca Poli, Christian Franceschini, Piero Barboni, Marco Seri, Simona Ferrari, Chiara La Morgia, Claudia Testa, Ferdinando Cornelio, Rocco Liguori, Juliane Winkelmann, Ling Lin, Emmanuel Mignot, Giuseppe Plazzi |
Journal | Sleep medicine
(Sleep Med)
Vol. 15
Issue 5
Pg. 582-5
(May 2014)
ISSN: 1878-5506 [Electronic] Netherlands |
PMID | 24709307
(Publication Type: Case Reports, Journal Article)
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Copyright | Copyright © 2014 Elsevier B.V. All rights reserved. |
Chemical References |
- Inositol
- DNA (Cytosine-5-)-Methyltransferase 1
- DNA (Cytosine-5-)-Methyltransferases
- DNMT1 protein, human
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Topics |
- Adolescent
- Adult
- Aged
- Aged, 80 and over
- Asymptomatic Diseases
- Brain
(pathology)
- Cerebellar Ataxia
(complications, genetics, physiopathology)
- Cerebellum
(chemistry)
- DNA (Cytosine-5-)-Methyltransferase 1
- DNA (Cytosine-5-)-Methyltransferases
(genetics)
- Deafness
(complications, genetics, physiopathology)
- Female
- Humans
- Inositol
(analysis)
- Magnetic Resonance Imaging
- Male
- Middle Aged
- Mutation
(genetics)
- Narcolepsy
(complications, genetics, physiopathology)
- Neuroimaging
- Pedigree
- Polysomnography
- Proton Magnetic Resonance Spectroscopy
- Sleep
(genetics, physiology)
- Young Adult
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