5 results match your criteria: "Honmachi Neurological Clinic.[Affiliation]"

Pathological findings in a patient with alpha-synuclein p.A53T and familial Parkinson's disease.

Parkinsonism Relat Disord

December 2020

Department of Neurology, Juntendo University School of Medicine, 2-1-1 Hongo, Bunkyo-ku, Tokyo, 113-8421, Japan. Electronic address:

The present report documents a patient harboring an alpha-synuclein p.A53T variant from a family presenting with autosomal dominant inheritance, including four patients clinically diagnosed with Parkinson's disease (PD) and two with dementia. The alpha-synuclein p.

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The identified clinical features of Parkinson's disease in homo-, heterozygous and digenic variants of PINK1.

Neurobiol Aging

January 2021

Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan; Research Institute for Diseases of Old Age, Graduate School of Medicine, Juntendo University, Tokyo, Japan. Electronic address:

Article Synopsis
  • The study examined the prevalence of PINK1 gene variants in 1,700 Parkinson's disease patients to understand their impact on the disease.
  • Researchers found that patients with homozygous PINK1 variants had an earlier onset of Parkinson's, indicating a correlation between variant type and age of onset.
  • Additionally, about half of the patients with heterozygous PINK1 variants showed reduced heart function, highlighting the clinical significance of these genetic variations in Parkinson's disease.
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Patients with neurodegenerative diseases by definition, experience slowly progressive aggravation of their condition; in the terminal stage many patients need some special management, tube feeding or suction, and thus home care is often difficult. For home care management, communication among all those involved, namely, medical staff, patients and their families, home doctor, nurse, physical therapist, helper and hospital, is very important. The results of a questionnaire we sent to the patients' families, clearly showed that they would hope to take home care as long as possible, be able to consult the specialists any time and have a reliable care-manager.

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We report a 74-year-old woman with excessive daytime sleepiness (EDS) who were diagnosed as probable progressive supranuclear palsy (PSP). Her EDS mimicked narcolepsy without cataplexy, because multiple sleep latency tests showed short latencies, human leukocyte antigen testing was positive for DR2/DQB1, and orexin A (hypocretin-I) concentration in her cerebrospinal fluid was undetectable. In PSP, neurofibrillary tangles appears in the hypothalamus, neuronal loss and gliosis are seen in a number of pontine and mesencephalic tegmental nuclei, substantia nigra, locus caeruleus.

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Patients with neurodegenerative diseases by definition, experience slowly progressive aggravation of their condition; in the terminal stage many patients need some special management, tube feeding or suction, and thus home care is often difficult. For home care management, communication among all those involved, namely, medical staff, patients and their families, home doctor, nurse, physical therapist, helper and hospital, is very important. The results of a questionnaire we sent to the patients' families, clearly showed that they would hope to take home care as long as possible, be able to consult the specialists any time and have a reliable care-manager.

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