title: Fragile X syndrome associated with tic disorders.
abstract: Movement disorders other than late onset tremor-ataxia in association with fragile X syndrome, the most common identifiable cause of inherited mental retardation, seem to be rare. Here we describe five male patients from three unrelated families with fragile X syndrome that presented with motor and phonic tics. Clinically, 4 patients fulfilled diagnostic criteria for Gilles de la Tourette syndrome (GTS) while 1 patient would have been diagnosed with an adult onset tic disorder. However, in all patients onset of tics was considerably later than in typical GTS. Three patients had atypical tics and two patients reported waxing and waning of tic intensity over time. Four of the 5 patients showed clinical signs typical of fragile X syndrome, in particular dysmorphic features, learning difficulties and speech and language problems that required special treatment. All patients had co-morbidities common to both GTS and fragile X syndrome. We suggest considering fragile X syndrome in GTS complicated by co-morbidity with late onset of atypical tics, in particular when learning disability and dysmorphic features are present.
authors.affiliation: Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, Queen Square, London, United Kingdom.
authors.forename: Susanne A
authors.initials: SA
authors.lastname: Schneider
authors.forename: Mary M
authors.initials: MM
authors.lastname: Robertson
authors.forename: Renata
authors.initials: R
authors.lastname: Rizzo
authors.forename: Jeremy
authors.initials: J
authors.lastname: Turk
authors.forename: Kailash P
authors.initials: KP
authors.lastname: Bhatia
authors.forename: Michael
authors.initials: M
authors.lastname: Orth
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D015897:Comorbidity; D003241:Consanguinity; D004252:DNA Mutational Analysis; D005500:Follow-Up Studies; D051860:Fragile X Messenger Ribonucleoprotein 1 / Q000235:genetics; D005600:Fragile X Syndrome / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics; D007585:Jews / Q000235:genetics; D008297:Male; D008609:Mental Status Schedule; D009460:Neurologic Examination; D010641:Phenotype; D013981:Tic Disorders / Q000175:diagnosis* / Q000235:genetics; D005879:Tourette Syndrome / Q000175:diagnosis* / Q000235:genetics; D018911:Trinucleotide Repeats
chemical_list: D051860:Fragile X Messenger Ribonucleoprotein 1; C497683:FMR1 protein, human