BACKGROUND Progressive ataxia and palatal tremor (PAPT) can be observed in both acquired brainstem or cerebellar lesions and genetic disorders. PHENOMENOLOGY SHOWN PAPT due to mutation in POLG, the gene encoding the mitochondrial DNA polymerase. EDUCATIONAL VALUE POLG mutation should be considered in patients with PAPT, particularly when additional clues such as a sensory neuronopathy or an...

ii Abbreviations iv Manuscripts vi Populärvetenskaplig sammanfattning på svenska vi

BACKGROUND Essential tremor (ET) is often familial and phenotypic features may be shared within families. Cranial (neck, voice, and jaw) tremor is an important feature of ET. We examined whether cranial tremor aggregates in ET families, after controlling for other factors (age, tremor severity, and duration). METHODS Among ET probands and relatives enrolled in a genetic study at Columbia Univ...

A rhythmic tremor at about 10 c./sec. is a wellknown feature of muscular contraction in healthy adults. In some subjects the amplitude of the tremor is such that it is discernible by the naked eye, while in others sensitive methods of recording are required for its detection. While studying this phenomenon Marshall and Walsh (1956) noticed that the tremor in six normal children was slower than ...

Forehead tremor has only been reported in two patients with essential tremor, one with rhythmic tremor and the other with dystonic tremor. We report 4 new patients with essential tremor who present a 4-6 Hz frontal tremor registered by electromyography and unusual features like frontal tremor preceding limb tremor or unilateral involvement. Frontal tremor is present in some patients with essent...

David P. Piñero*†‡, Begoña Monllor*, Vicenta Moncho*, Vicent J. Camps* and Dolores de Fez* *Grupo de Óptica y Percepci on Visual (GOPV) Department of Optics, Pharmacology and Anatomy University of Alicante, Spain Department of Ophthalmology (OFTALMAR) Medimar International Hospital, Alicante, Spain Foundation for the Visual Quality (Fundaci on para la Calidad Visual, FUNCAVIS) Alicante, Spain d...

Background Essential tremor (ET) is among the most common neurological diseases and it often runs in families. How knowledgeable ET patients and their families are about their disease has been the subject of surprisingly little scholarship. Methods To fill this gap in knowledge, we administered a comprehensive 32-item survey (i.e., questions about etiology, pathophysiology, symptoms and signs...