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BACKGROUND Most patients with dementia with Lewy bodies (DLB) exhibit diffuse plaque-only pathology with rare neocortical neurofibrillary tangles (NFTs), as opposed to the widespread cortical neurofibrillary-tau involvement in Alzheimer disease (AD). Another pathological difference is the astrocytic and microglial inflammatory responses, including release(More)
Movement disorders are well known features of some dominant hereditary ataxias (HA), specially SCA3/Machado-Joseph disease and dentatorubropallidolusyan atrophy. However, little is known about the existence and classification of movement disorders in other dominant and recessive ataxias. We prospectively studied the presence of movement disorders in(More)
Bradykinesia is a frequent finding in Huntington's disease (HD), but some aspects are presently unknown; including the natural evolution of bradykinesia over time and the correlation between bradykinesia and functional capacity. We studied the motor performance of 20 genetically confirmed patients with HD (age: 40±10.8 years; age at onset 33.6±11 years;(More)
Progressive supranuclear palsy (PSP) is a disorder of unknown pathogenesis. Familial clusters of PSP have been reported related to mutations of protein tau. We report the linkage of a large Spanish family with typical autosomal dominant PSP to a new locus in chromosome 1. Four members of this family had typical PSP, confirmed by neuropathology in one case.(More)
BACKGROUND Oculomotor abnormalities, especially slow saccades, have long been recognized in Huntington's disease (HD). OBJECTIVES AND METHODS To study prospectively horizontal saccade velocity by videonystagmography in 21 patients with genetically confirmed HD. The study included a baseline analysis and a second evaluation after 18.8 +/- 7.1 months. We(More)
OBJECTIVES To describe the clinical and epidemiologic aspects of different types of focal dystonia. PATIENTS AND METHODS A total of 205 patients with primary focal dystonia were studied retrospectively and the following variables were analyzed: gender, age of onset, age at examination, evolution time, history of trauma, association with other movement(More)
INTRODUCTION Dominant autosomic ataxias include a group of neurodegenerative diseases characterized by the abnormal expansion of triplets. CASE REPORT Male aged 33, with expansion of the SCA 8 gene (100 repetitions), who presented a clinical picture compatible with a pancerebellar syndrome. The patient had been diagnosed 11 years earlier as suffering from(More)
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