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Spinocerebellar ataxia type 6 (SCA6) was recently identified as a form of autosomal dominant cerebellar ataxia associated with small expansions of the trinucleotide repeat (CAG)n in the gene CACNL1A4 on chromosome 19p13, which encodes the alpha1 subunit of a P/Q-type voltage-gated calcium channel. We describe clinical, genetic, neuroimaging,(More)
Episodic ataxia type 2 (EA2) is a dominantly inherited disorder, characterized by spells of ataxia, dysarthria, vertigo, and migraines, associated with mutations in the neuronal calcium-channel gene CACNA1A. Ataxic spells lasting minutes to hours are provoked by stress, exercise, or alcohol. Some patients exhibit nystagmus between spells and some develop(More)
CONTEXT Although phenotypic heterogeneity in autosomal dominant spinocerebellar ataxia (SCA) has been explained in part by genotypic heterogeneity, clinical observations suggest the influence of additional factors. OBJECTIVES To demonstrate, quantitate, and localize physiologic abnormalities attributable to nongenetic factors in the development of(More)
BACKGROUND Corticobasal degeneration (CBD) and progressive supranuclear palsy (PSP) are neurodegenerative tauopathies. Sporadic and familial cases of PSP and CBD have been noted, but both have not been reported in a single family. OBJECTIVE To describe the clinical, oculomotor, balance, functional imaging, histopathologic, and genetic studies in a family(More)
BACKGROUND Early detection of impaired neurological function in neurodegenerative diseases may aid in understanding disease pathogenesis and timing of therapeutic trials. OBJECTIVE To identify early abnormalities of ocular motor function in individuals who have the spinocerebellar ataxia type 6 (SCA6) gene (CACNA1A) but no clinical symptoms. DESIGN(More)
Heart rate, blood pressure, temperature and plasma corticosteroids were measured in pregnant rhesus monkeys during 23 successive 2 hour chair restraint periods beginning in midgestation. Heart rate (15%), blood pressure (13%) and plasma cortisol (23%) declined from first to last sessions. Reduction in physiological indicators of stress was most marked(More)
A scoring system is presented for quantitative evaluation of labor readiness in macaque monkeys. Cervical position, length, softness and dilation are rated along with fetal head position for a total score of 13. The system is based on experience in evaluating readiness of multiparous rhesus monkeys for labor induction. Guidelines for the examination for use(More)
Labyrinthectomy is indicated for a patient who has unilateral peripheral labyrinthine disease with unserviceable hearing loss. For most patients, labyrinthectomy provides complete relief from intractable vertigo. Some patients continue to have persistent vertigo, however, even after a complete destructive labyrinthectomy. Only after cochleovestibular nerve(More)
The autosomal dominant spinocerebellar ataxias (SCAs) are a group of neurodegenerative diseases characterized by progressive instability of posture and gait, incoordination, ocular motor dysfunction, and dysarthria due to degeneration of cerebellar and brainstem neurons. Among the more than 20 genetically distinct subtypes, SCA8 is one of several wherein(More)
Four patients with a novel mutation leading to episodic ataxia type 2 were studied in a task that required them to track target motion either with the eyes or with the index finger of the right hand. The target initially moved in a straight line and then changed direction at an unpredictable time by an unpredictable amount. On the day of testing, 3 of the(More)