نتایج جستجو برای: progressive pontobulbar palsy
تعداد نتایج: 140552 فیلتر نتایج به سال:
records were collected on an annual basis and all pertinent information was entered into a database. For patients with cognitive impairment a caregiver with knowledge of the patient’s family and personal medical history completed the registry form. Upon death, remaining medical records were collected and neuropathological analyses were performed. Patients were brought to autopsy according to st...
Recent studies have shown that progressive supranuclear palsy (PSP) could be inherited, but the pattern of inheritance and the spectrum of the clinical findings in relatives are unknown. We here report 12 pedigrees, confirmed by pathology in four probands, with familial PSP. Pathological diagnosis was confirmed according to recently reported internationally agreed criteria. The spectrum of the ...
BACKGROUND Many genes/loci associated with Parkinsonian disorders have been identified. However, the genetic causes for a number of familial forms of Parkinsonian disorders remain to be elucidated. OBJECTIVE It was the aim of this paper to review the familial progressive supranuclear palsy (PSP) cases without any known gene mutations published in the English literature. METHODS We searched ...
Solitary abducens palsy secondary to isolated sphenoid sinus disease (ISSD) is rare and early management is important. There is no report regarding the results of endoscopic sinus surgery (ESS) for prolonged abducens palsy due to ISSD. We present four cases of ISSD with solitary abducens palsy that received ESS from 1995 through 2000. The interval between onset of diplopia and ESS was longer th...
mer's disease in kindreds with missense mutations in a gene on chromosome 1 related to the Alzheimer's disease type 3 gene. Estimation of the genetic contribution of presenilin-1 and-2 mutations in a population-based study of presenile Alzheimer disease. High prevalence of pathogenic mutations in patients with early-onset dementia detected by sequence analyses of four different genes. mutation ...
BACKGROUND Progressive supranuclear palsy (PSP) is a neurodegenerative extrapyramidal syndrome. Studies have demonstrated that PSP can present clinically as an atypical dementing syndrome dominated by a progressive apraxia of speech (AOS) and aphasia. AIM We aimed to investigate the clinical presentation of PSP, using a comprehensive multidimensional evaluation, and the disease response to va...
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