Single (GCN)11/Ala11 Allele Induces Incomplete Oculopharyngeal Muscular Dystrophy Presenting Atypical Disease Course / 대한신경근육질환학회지

Oculopharyngeal muscular dystrophy (OPMD) is a late-onset myopathy caused by (GCN) expansions in the polyalanine binding protein nuclear 1 gene (PABPN1) located on chromosome 14q11. This study reports a case of an incomplete clinical characteristics of OPMD with heterozygous (GCN)11 expansion. A fifty-nine-year-old Korean woman was suffering from non-progressive dysarthria, dysphagia for five years. Neurologic findings were unremarkable except for tongue atrophy and mild ptosis. A genetic screening confirmed heterozygous (GCN)11 expansion in the PABPN1 gene.

Amyloid Burden in Alzheimer's Disease Patients Is Associated with Alterations in Circadian Rhythm

Background@#and Purpose: In this study we evaluated the relationship between amyloid-beta (Aβ) deposition and 3 aspects of sleep quality in a group of clinically diagnosed Alzheimer's disease (AD) patients. @*Methods@#We used self-report questionnaires to assess the quality of sleep using 3 previously established surveys: the Glasgow Sleep Effort Scale (GSES), the Pittsburgh Sleep Quality Index (PSQI), and the Morningness-Eveningness Questionnaire (MEQ). These questionnaires focused on the sleep effort, sleep efficiency, and circadian rhythm patterns of each participant. Also, we evaluated the regional distribution of Aβ in the brain by amyloid positron emission tomography-computed tomography (PET-CT) standardized uptake value ratios (SUVRs) in healthy normal (HN), mild cognitive impairment (MCI), and AD dementia groups. The MCI and AD dementia groups were combined to form the group with cognitive impairment due to AD (CIAD). @*Results@#GSES and MEQ scores differed significantly between the HN, MCI, and AD dementia groups (p<0.037), whereas PSQI scores were similar across the groups (p=0.129). GSES and MEQ scores also differed between the HN and CIAD groups (p<0.018). Circadian rhythm scores positively correlated with amyloid PET-CT SUVR in posterior cingulate cortices (p<0.049). @*Conclusions@#Sleep effort and abnormal shifts in circadian rhythm were more significant in the CIAD group than in the HN group. At the same time, HN subjects had minimal sleep disturbance, irrespective of clinical status. Thus, alterations in circadian rhythm may be indicative of neurodegeneration due to Aβ deposition.

Single (GCN)11/Ala11 Allele Induces Incomplete Oculopharyngeal Muscular Dystrophy Presenting Atypical Disease Course / 대한신경근육질환학회지

Oculopharyngeal muscular dystrophy (OPMD) is a late-onset myopathy caused by (GCN) expansions in the polyalanine binding protein nuclear 1 gene (PABPN1) located on chromosome 14q11. This study reports a case of an incomplete clinical characteristics of OPMD with heterozygous (GCN)11 expansion. A fifty-nine-year-old Korean woman was suffering from non-progressive dysarthria, dysphagia for five years. Neurologic findings were unremarkable except for tongue atrophy and mild ptosis. A genetic screening confirmed heterozygous (GCN)11 expansion in the PABPN1 gene.

Nonalcoholic Wernicke's Encephalopathy With Diffuse Cortical Involvement

Wernicke's encephalopathy is an acute neurological deterioration due to a reversible brain lesion caused by thiamine deficiency. Most of the affected patients are thiamine-depleted alcoholics, and the condition usually involves the medial thalami, mammillary bodies, and periaqueductal area. However, there are rare reports of lesions in the cerebellum and cerebral cortex, especially in patients with nonalcoholic Wernicke's encephalopathy. We report a case of nonalcoholic Wernicke's encephalopathy involving atypical diffuse cortical regions, and review previously reported cases.

Radiation-induced Leukoencephalopathy Presenting as Lower Body Parkinsonism

No abstract available.