Prevalence of Essential Tremor on Arosa Island, Spain: a Community-based, Door-to-Door Survey.

Background: The prevalence of essential tremor (ET) is still not well understood and the various studies performed to date have generated highly variable results. Few epidemiologic studies on the prevalence of ET have been reported from Spain.

Methods: A one-stage door-to-door survey was conducted on Arosa Island, northwestern Spain, to determine the prevalence of ET in the population aged 65 years and older.

L-2-hydroxyglutaric aciduria: clinical, neuroimaging, and neuropathological findings.

Background: l-2-Hydroxyglutaric aciduria is a rare, infantile-onset, autosomal recessive organic aciduria affecting exclusively the central nervous system. To our knowledge, only 1 complete report of the neuropathological findings in an adult has been published.

Objective: To present the clinical, neuroimaging, and neuropathological findings of l-2-hydroxyglutaric aciduria.

Unusual clinical findings and Complex III deficiency in a family with myotonic dystrophy.

Myotonic dystrophy type 1 (DM1), an autosomal dominant disease characterized by a CTG expansion in the 3' region of the DMPK gene in chromosome 19, is a highly heterogeneous disease. In this study, we present a family with early onset-classical type DM, and a homogeneous phenotype highlighted by severe neuromuscular symptoms and mental dysfunction with subcortical-type dementia. Neuroradiological abnormalities included brain atrophy, white matter lesions, and basal ganglia calcifications.