Perry syndrome consists of early-onset parkinsonism, depression, severe weight loss and hypoventilation, in which brain pathology is characterized by TDP-43 immunostaining. Through genome-wide linkage analysis we have identified five disease-segregating dynactin (DCTN1) CAP-Gly domain substitutions in 8 families that diminish microtubule binding and lead to intracytoplasmic inclusions. DCTN1 mutations were previously associated with motor neuron disease but can underlie the selective vulnerability of other neuronal populations in distinct neurodegenerative disorders.

Psychometric case identification of individuals at risk for developing schizophrenia-spectrum disorders is an important enterprise. Unfortunately, current instruments for this purpose are limited. The present studies sought to improve the Schizotypal Personality Questionnaire-Brief (SPQ-Brief), a measure of schizotypal traits that has come under recent criticism. In the first study, we conducted exploratory factor analysis on the SPQ-Brief using a Likert-style scoring format in a large sample of nonclinical adults. Although acceptable internal consistency was found, the original factor structure was not supported. In the second study, we administered the full version of the SPQ to a separate large nonclinical adult sample and employed exploratory and confirmatory factor analysis to identify critical items that could be used to revise the SPQ-Brief. The end product of these studies is the SPQ-Brief Revised, which offers a subordinate seven-factor and super-ordinate three or four factor solution, employs a Likert-scale format to improve sensitivity, and is brief (34 items).

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Objective-Leucine-rich repeat kinase 2 (LRRK2) mutations are the most common cause of Parkinson disease (PD) Methods-We identified 33 affected and 15 unaffected LRRK2 c.4321C>T (p.R1441C) mutation carriers through an international consortium originating from three continents. The age-specific cumulative incidence of PD was calculated by Kaplan-Meier analysis.Results-The clinical presentation of Lrrk2 p.R1441C carriers was similar to sporadic PD and Lrrk2 p.G2019S parkinsonism. The mean age at onset for parkinsonism was 60 years, range 30 -79 years; fewer than 20% of the patients had symptoms before the age 50 years, while by 75 years >90% of them had developed symptoms. Haplotype analysis suggests four independent founders for the p.R1441C mutation.