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The cognitive profile of early onset Parkinson’s disease (EOPD) has not been clearly defined. Mutations in the parkin gene are the most common genetic risk factor for EOPD and may offer information about the neuropsychological pattern of performance in both symptomatic and asymptomatic mutation carriers. EOPD probands and their first-degree relatives who did not have Parkinson’s disease (PD) were genotyped for mutations in the parkin gene and administered a comprehensive neuropsychological battery. Performance was compared between EOPD probands with (N = 43) and without (N = 52) parkin mutations. The same neuropsychological battery was administered to 217 first-degree relatives to assess neuropsychological function in individuals who carry parkin mutations but do not have PD. No significant differences in neuropsychological test performance were found between parkin carrier and noncarrier probands. Performance also did not differ between EOPD noncarriers and carrier subgroups (i.e., heterozygotes, compound heterozygotes/homozygotes). Similarly, no differences were found among unaffected family members across genotypes. Mean neuropsychological test performance was within normal range in all probands and relatives. Carriers of parkin mutations, whether or not they have PD, do not perform differently on neuropsychological measures as compared to noncarriers. The cognitive functioning of parkin carriers over time warrants further study. (JINS, 2011, 17, 1–10)
Melodie R. Winawer, Columbia University, Sergievsky Center, 630 W. 168th Street, New York, NY 10032, USA,
Ruth Ottman, Columbia University, GH Sergievsky Center, 630 W. 168th Street, New York, NY 10032, USA
This chapter provides a thorough and comprehensible overview of epilepsy and genetics. The identification of epilepsy genes can contribute in many more important ways to public and individual health. In order to understand the genetic causes of epilepsy, it is important to review a few basic concepts and definitions. The chapter explains the basic genetic terms and concepts such as genes, chromosomes, autosomal dominant disease, autosomal recessive genes, sex chromosomes, X-linked dominant disease, and X-linked recessive disease. It explores how epilepsy is inherited. The risk of developing epilepsy in the relatives of affected people is increased compared with the general population, but the size of this risk depends on many factors, one of which is closeness of the relationship to the affected person. Studying the families of people affected with epilepsy is an important way of investigating the genetic contributions to the development of epilepsy.
Rapid developments in molecular genetics in recent years have afforded tremendous growth in our understanding of the pathophysiology of many neurologic diseases. This chapter addresses the basis of the complexity in the genetic contributions to common neurologic disorders, gene-environment interaction, and the pathway for investigating the genetic contributions to disease risk. It describes the methods for collection of accurate information on disease occurrence in families, and research strategies commonly employed in genetic epidemiology. In general, complex diseases are much more common than simple genetic diseases. Some examples in neurology would include (among many others): epilepsy, Alzheimer's disease (AD), Parkinson's disease (PD), migraine, essential tremor, and amyotrophic lateral sclerosis (ALS). Variable expressivity is sometimes observed even in so-called simple genetic diseases. The genetic epidemiology of epilepsy provides a clear example of etiologic heterogeneity. Some genetic influences on susceptibility to complex diseases may involve genetic interaction (epistasis).
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