Résumé
Dentatorubropallidoluysian atrophy (DRPLA) is a neurodegenerative disease caused by an expansion of a cytosine-adenine-guanine (CAG) repeat encoding a polyglutamine tract in the atrophin-1 protein. Unlike other CAG repeat diseases, sleep related problems have not been reported in patients with DRPLA. There was a 65-year-old man and his family with DRPLA. They suffered from seizure, gait disturbance, and cognitive decline. The patients commonly showed dream enacting sleep disorder, insomnia. The results from overnight polysomnography showed rapid eye movement (REM) without atonia in patients with DRPLA. The man died 2 years after diagnosis and was subjected for brain autopsy. We report REM sleep behavior disorders in patients with DRPLA confirmed with polysomnography with pathological description of the patient.
Sujets)
Sujet âgé , Humains , Atrophie , Autopsie , Encéphale , Ataxie cérébelleuse , Diagnostic , Rêves , Démarche , Troubles mentaux , Maladies neurodégénératives , Polysomnographie , Crises épileptiques , Troubles de l'endormissement et du maintien du sommeil , Troubles de la veille et du sommeil , Sommeil paradoxalRésumé
The possibility of a central origin should be considered for late-onset concomitant esotropia. Concomitant esotropia has been reported to occur with spinocerebellar ataxia types 1, 2, and 3, but not with other degenerative cerebellar ataxia disorders. We report on a 28-year-old woman with ataxia in whom a detailed ophthalmologic examination revealed concomitant esotropia. She was subsequently diagnosed with dentatorubropallidoluysian atrophy (DRPLA). We suggest that the presence of concomitant esotropia could be used to differentiate DRPLA from other hereditary ataxias.
Sujets)
Adulte , Femelle , Humains , Ataxie , Atrophie , Ataxie cérébelleuse , Ésotropie , Ataxies spinocérébelleuses , Dégénérescences spinocérébelleusesRésumé
Dentatorubropallidoluysian atrophy (DRPLA) is a rare neurodegenerative disorder usually inherited in an autosomal dominant pattern. DRPLA has been shown to be associated with expansion of an unstable cytosine-adenine-guanine (CAG) trinucleotide repeat in a gene on chromosome 12p. We evaluated a family with DRPLA that affected three members; A 35-year-old female presented with seven year history of gait ataxia, dysarthria and mild cognitive impairment. The MRI of the brain revealed diffuse cerebellar atrophy with an incidental lipoma in the midbrain. Her 30-year-old brother presented with progressive cerebellar ataxia that developed at the age of 20. Her grandmother and mother were reported to have developed ataxia during the late period of their life, and died at the age of 60 and 55, respectively. The demonstration of an expanded CAG repeat in the gene for DRPLA was used to confirm the diagnosis.
Sujets)
Adulte , Femelle , Humains , Ataxie , Atrophie , Encéphale , Ataxie cérébelleuse , Diagnostic , Dysarthrie , Démarche ataxique , Gènes vif , Lipome , Imagerie par résonance magnétique , Mésencéphale , Dysfonctionnement cognitif , Mères , Maladies neurodégénératives , Fratrie , Répétitions de trinucléotidesRésumé
PURPOSE: To report a patient with dentatorubropallidoluysian atrophy (DRPLA) accompanied by a corneal endothelial change. METHODS: The ophthalmic findings in a 37-year-old man with cerebellar ataxia, showing cerebellar atrophy on magnetic resonance imaging and was diagnosed with DRPLA based on DNA analysis, which revealed an expansion of the CAG repeats at the DRPLA locus, were compared with those of healthy control subjects. This study examined the best corrected visual acuity, the light reflex, the slit lamp examination, the topography, the fundus findings, the fluorescein angiography (FAG), the visual field, the electroretinography (ERG), and the specular microscopy. RESULTS: The best-corrected visual acuity was 1.0 on both eyes by the Han visual chart, and the other ocular findings were within the normal limits. The only abnormal finding was significantly lower corneal endothelial cell density (876 and 941 cells/mm2 respectively) compared to the normal level. CONCLUSIONS: Corneal endothelial cell loss is the only an important finding of DRPLA, and the corneas of DRPLA patients should be examined specifically by specular microscopy.
Sujets)
Adulte , Humains , Atrophie , Ataxie cérébelleuse , Cornée , Perte de cellules endothéliales cornéennes , ADN , Électrorétinographie , Cellules endothéliales , Endothélium de la cornée , Angiographie fluorescéinique , Imagerie par résonance magnétique , Microscopie , Réflexe , Acuité visuelle , Champs visuelsRésumé
Corneal endothelial degeneration has been reported in diseases associated with CAG repeat expansion including spinocerebellar ataxia type 1 (SCA1) and dentatorubropallidoluysian atrophy (DRPLA). We report a 35-year-old man who has cerebellar ataxia, myoclonic seizure, dystonia, chorea, mental retardation, and visual disturbance. Detailed ophthalmologic examination showed marked reduction of the corneal endothelial cell density. Genetic analysis revealed the presence of a pathological CAG expansion within the DRPLA gene. We suggest that corneal endothelial degeneration might be one of the signs differentiating DRPLA from other hereditary ataxias.
Sujets)
Adulte , Humains , Atrophie , Ataxie cérébelleuse , Chorée , Dystonie , Cellules endothéliales , Déficience intellectuelle , Crises épileptiques , Ataxies spinocérébelleuses , Dégénérescences spinocérébelleusesRésumé
Corneal endothelial degeneration has been reported in diseases associated with CAG repeat expansion including spinocerebellar ataxia type 1 (SCA1) and dentatorubropallidoluysian atrophy (DRPLA). We report a 35-year-old man who has cerebellar ataxia, myoclonic seizure, dystonia, chorea, mental retardation, and visual disturbance. Detailed ophthalmologic examination showed marked reduction of the corneal endothelial cell density. Genetic analysis revealed the presence of a pathological CAG expansion within the DRPLA gene. We suggest that corneal endothelial degeneration might be one of the signs differentiating DRPLA from other hereditary ataxias.
Sujets)
Adulte , Humains , Atrophie , Ataxie cérébelleuse , Chorée , Dystonie , Cellules endothéliales , Déficience intellectuelle , Crises épileptiques , Ataxies spinocérébelleuses , Dégénérescences spinocérébelleusesRésumé
The dentatorubropallidoluysian atrophy (DRPLA) is a neurodegenerative disorder with expansion of an unstable CAG trinucleotide repeat in a gene on chromosome 12 and a rare cause of progressive myoclonus epilepsy (PME). A 34-year-old female showed progressive myoclonus, choreoathetosis, generalized tonicclonic seizure, dementia and ataxia. Her uncle died during convulsion at the age of 19. Brain MRI revealed cerebral, cerebellar and brainstem atrophy accompanied by dilatation of the fourth ventricle. The demonstration of expanded CAG repeat (67/11) in the gene for DRPLA was used to confirm the diagnosis. (J Korean Neurol Assoc 19(2):173~175, 2001)
Sujets)
Adulte , Femelle , Humains , Ataxie , Atrophie , Encéphale , Tronc cérébral , Chromosomes humains de la paire 12 , Démence , Diagnostic , Dilatation , Quatrième ventricule , Gènes vif , Imagerie par résonance magnétique , Épilepsies myocloniques progressives , Myoclonie , Maladies neurodégénératives , Crises épileptiques , Répétitions de trinucléotidesRésumé
The dentatorubropallidoluysian atrophy (DRPLA) is a neurodegenerative disorder with expansion of an unstable CAG trinucleotide repeat in a gene on chromosome 12 and a rare cause of progressive myoclonus epilepsy (PME). A 34-year-old female showed progressive myoclonus, choreoathetosis, generalized tonicclonic seizure, dementia and ataxia. Her uncle died during convulsion at the age of 19. Brain MRI revealed cerebral, cerebellar and brainstem atrophy accompanied by dilatation of the fourth ventricle. The demonstration of expanded CAG repeat (67/11) in the gene for DRPLA was used to confirm the diagnosis. (J Korean Neurol Assoc 19(2):173~175, 2001)