نتایج جستجو برای: episodic ataxia type 2
تعداد نتایج: 3480788 فیلتر نتایج به سال:
Episodic ataxia type 2 is an autosomal dominant disorder with attacks of vertigo and ataxia which respond to acetazolamide treatment. The gene, distinct from the KCNA1 responsible for episodic ataxia type 1, has been mapped on chromosome 19p13 in a 11-12 cM region. A large Italian kindred affected with acetazolamide-responsive episodic ataxia is reported, with onset in adulthood, a strong vesti...
OBJECTIVE The therapeutic effects of 4-aminopyridine (4AP) were investigated in a randomized, double-blind, crossover trial in 10 subjects with familial episodic ataxia with nystagmus. METHODS After randomization, placebo or 4AP (5 mg 3 times daily) was administered for 2 3-month-long treatment periods separated by a 1-month-long washout period. The primary outcome measure was the number of a...
Young children are assumed to be inefficient inhibitors in a number of cognitive tasks. In two experiments, we examined whether such deficits extend to children's episodic recall. We used two inhibition paradigms: retrieval-induced forgetting, the detrimental effect of retrieval practice with a subset of learned items on recall of the unpracticed items, and part-list cuing, the detrimental effe...
The authors examined how the interaction between perceived unfairness and episodic envy predicts interpersonal counterproductive work behaviors toward the envied other. In 2 studies using different samples and methods to elicit envy, predictions were compared based on the social exchange and attribution models of fairness. The results support the social exchange model of fairness, showing that ...
Cellular Transplantation May Modulate Disease Progression in Spino-cerebellar Ataxia – a Case Report
We report a patient with episodic ataxia (presumably of type 2) who developed cerebral oedema secondary to a common infection (presumably viral). Cerebral oedema may be a part of the clinical spectrum of familial episodic ataxia and argues for an overlap with hemiplegic migraine. It is suggested to consider a diagnosis of episodic ataxia or familial hemiplegic migraine in catastrophic reactions...
The familial episodic ataxia type II is a rare, dominantly inherited disease characterized by episodes of ataxia of early onset, often with completely normal cerebellar function between attacks. We report a family with affected members who had features of episodic ataxia type II and cerebellar atrophy on MRI imaging. All the affected members were successfully treated with acetazolamide, a carbo...
BACKGROUND Episodic ataxia type 2 (EA2) and familial hemiplegic migraine type 1 (FHM1) are autosomal dominant disorders characterised by paroxysmal ataxia and migraine, respectively. Point mutations in CACNA1A, which encodes the neuronal P/Q-type calcium channel, have been detected in many cases of EA2 and FHM1. The genetic basis of typical cases without CACNA1A point mutations is not fully kno...
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