The SCA6 mutation, a small expansion of a CAG repeat in a calcium channel gene CACNA1A, was identified in three pedigrees. Point mutations in other parts of the gene CACNA1A were excluded and new clinical features of SCA6 reported--namely, central positional nystagmus and episodic ataxia responsive to acetazolamide. The three allelic disorders, episodic ataxia type 2, familial hemiplegic migrai...

The ataxia-telangiectasia mutated (ATM) protein kinase has been extensively studied for its role in the DNA damage response and its association with the disease ataxia telangiectasia. There is increasing evidence that ATM also plays an important role in other cellular processes, including carbon metabolism. Carbon metabolism is highly dysregulated in cancer due to the increased need for cellula...

OBJECTIVE This study determined the applicability of Japanese working environment measurements to assessment of personal exposure concentrations of chemicals by comparing both levels of concentrations. METHODS The chemicals measured in this study comprised eight kinds of vaporous chemicals as well as two kinds of chemicals in dust. Personal exposure measurements, Japanese working environment ...

and Muthukumara Mani for many useful comments and suggestions. This paper has been produced in a collaborative program with China's National Environmental Protection Agency and the World Bank's Country Department EA2.

Isolating the relative effects of episodic disturbances and chronic stressors on long-term community change is challenging. We assessed the impact of an episodic disturbance associated with human visitation (boat anchoring) relative to other drivers of long-term change on coral reefs. A one-time anchoring event at Crab Cove, British Virgin Islands, in 2004 caused rapid losses of coral and reef ...

Two experiments compared episodic word-list recall of young and older adults. In Experiment 1, using standard free-recall procedures, older adults recalled significantly fewer correct items and made significantly more intrusions (recall of items that had not appeared on the target list) than younger adults. In Experiment 2, we introduced a new method, called externalized free recall, in which p...

Episodic ataxia (EA) is a clinically heterogeneous group of disorders that are characterized by recurrent spells of truncal ataxia and incoordination lasting minutes to hours. Most have an autosomal dominant inheritance pattern. To date, 8 subtypes have been defined according to clinical and genetic characteristics, and five genes are known to be linked to EAs. Both EA1 and EA2, which are cause...

Spinocerebellar ataxia type 6 (SCA6) is one of three allelic disorders caused by mutations of CACNA1A gene, coding for the pore-forming subunit of calcium channel type P/Q. SCA6 is associated with small expansions of a CAG repeat at the 3' end of the gene, while point mutations are responsible for its two allelic disorders (Episodic Ataxia type 2 and Familial Hemiplegic Migraine). Genetic, clin...

Previous research has conceptualized dispositional envy as a unitary construct. Recently however, episodic envy has been shown to emerge in two qualitatively different forms. Benign envy is related to the motivation to move upward, whereas malicious envy is related to pulling superior others down. In four studies (N = 1,094)--using the newly developed Benign and Malicious Envy Scale (BeMaS)--we...