Acta Psychlaw Scand 1998: zyxwvutsrqponm 97: zyxwvutsrqpon 62-65 Printed zyxwvutsrqponm in UK zyxwvutsrqponm - all rights reserved Copyright zyxw 0 Munksgaard 1998 ACTA PSYCHIATRICA SCANDINAVICA ISSN 0001-690X Association of obsessive-compulsive disorder and pathological gambling with Huntington’s disease in an Italian pedigree: possible association with Huntington’s disease mutation De Marchi N, Morris M, Mennella R, La Pia zyxwvut S, Nestadt G. Association of obsessive-compulsive disorder and pathological gambling with Huntington’s disease in an Italian pedigree: possible association with Huntington’s disease mutation. Acta Psychiatr Scand 1998: 97: 62-65. 0 Munksgaard 1998. This paper describes a pedigree with Huntington’s disease (HD), in which three cases of obsessive-compulsive disorder (OCD) and two cases of pathological gambling (PG) were identified. The mutation analysis of the HD gene was carried out in the examined individuals who were at risk for HD. In fact, OCD and PG only occurred in carriers of the HD expansion. The possible implications of this finding are discussed. zyxwvu Introduction The occurrence of obsessions and compulsions has been repeatedly reported in the course of a variety of neurological conditions, including Sydenham’s chorea (1, 2), post-encephalitic Parkinsonism (3, 4), Tourette’s syndrome (5-7) and Huntington’s disease (HD) (8-10). Among these, HD is an autosomal dominant disorder characterized by dementia and choreic movements, usually begin- ning in midlife and due to a progressive neural degeneration, which is particularly marked in the striatum (11). An expansion of an unstable tri- nucleotide (CAG)n repeat in the coding region of the gene has been identified as the mutation responsible for the disease (12). Dewhurst et al. (8) reported the presence of ‘obsessional features’ in 7 of 102 patients with a diagnosis of HD. Tonkongy et al. (9) described a patient with clinical and neurological evidence of HD who displayed obsessive-compulsive(OC) symptoms, namely fears of contamination and compulsive hand-washing. Cummings and Cunningham (10) described two unrelated patients who displayed a compulsive N. De Marchi’, M. Morris’, R. Mennella’, S. La Pia3, G. Nestadt4 ’Department of Psychiatry, University of Naples, Naples, Italy, ’Division of Medical Genetics, Geneva University Hospital, Geneva, Switzerland. 3Department of Mental Health, Apicella Hospital, Pollena. Italy and 4Department of Psychiatry and Behavioral Sciences, The Johns Hopkins University School of Medicine. Baltimore, MD. USA Key words. Huntington’s disease; obsessive-compulsive disorder, genetics Nicola De Marchi. Clinica Primo Policlinico Universitario, Largo Madonna delle Grazie. 80138 Naples, Italy Accepted for publication February zyxw 8. 1997 symptomatology during the course of their clinical HD. This limited clinical evidence may be due to the fact that OC features often appear and/or are more easily detected in the preclinical phase of HD (i.e. in subjects who have not yet developed the neurological symptoms that define the condition). In the present paper, we describe a nuclear family with several cases of OCD and OC-related disorders occurring in subjects at risk for HD (that is, with one affected parent). In fact, we were surprised by the unusually high prevalence of these psychiatric disturbances in an HD family in the absence of other psychopathological conditions. Therefore, the pattern of association of the psychi- atric condition with the mutation at the HD gene has been investigated, and its implications are discussed. Material and methods The pedigree of this family is described in Fig. 1. Individual 1113 has been treated for OCD by one 62