Coprolalia and copropraxia in patients with Gilles de la Tourette syndrome.

BACKGROUND AND PURPOSE: Involuntary expression of socially unacceptable words (coprolalia) or gestures (copropraxia) is the best-known symptom of Gilles de Tourette syndrome (GTS) that contributes to the social impairment. The aim of the study was to assess the prevalence, age at onset and co-occurring symptoms of coprophenomena. MATERIALS AND METHODS: One hundred and sixty-eight consecutive subjects with GTS including 94 adults and 74 children and aged between 4 and 54 years (mean: 18.0±8.3) were studied. Demographic and clinical data were obtained from medical history and neurological examination. RESULTS: Coprolalia or copropraxia appeared in 44 patients. Both coprophenomena were present in 9 patients. Coprolalia occurred in 25.0% (n=42) and copropraxia in 6.5% (n=11) of patients. Mean age at onset was 12.2±5.7 years (range: 4-33) for coprolalia and 12.4±4.9 years (range: 7-24) for copropraxia. Coprolalia started 4.4±3.7 years (range: 0-16) after the onset of disease; copropraxia started 6.1±4.0 years (range: 1-12) after the onset of the disease. Coprolalia began in adulthood in six patients only, and copropraxia in one person. In six patients, coprolalia appeared in the first year of the disease. Copropraxia was never seen in the first year of the disease. Coprophenomena were more frequent in patients with comorbid mental disorders, behavioral problems and severe tics. Three quarters of patients reported significant influence of coprophenomena on daily living. CONCLUSIONS: Coprophenomena affect one quarter of GTS patients, appear in the time when tics are most severe, and are positively associated with comorbidity and more severe form of disease. Coprophenomena may reflect more widespread dysfunction of brain in GTS.

Tripeptidyl Peptidase 1 (TPP1) Deficiency in a 36-Year-Old Patient with Cerebellar-Extrapyramidal Syndrome and Dilated Cardiomyopathy.

We report on a 36-year-old man with cerebellar-extrapyramidal syndrome and severe heart failure because of dilated cardiomyopathy of unknown origin. Dysarthria and cardiac arrhythmia began at early childhood (4 years of age). Brain MRI (28 years of age) demonstrated severe cerebellar atrophy. At the age 32, he presented with dysarthria, ataxia, dystonia, and tremor of the right hand, bilateral slowed neural conduction in the visual pathways, and decreased mental acuity. At the age of 33 years, the patient underwent cardiac transplantation because of severe dilated cardiomyopathy. In the TPP1 gene, biallelic variants were identified: previously reported p.(Leu13Pro) and novel p.(Tyr508Cys) variant. Additionally, hemizygous novel missense variant in the ABCD1 gene was inherited from the mother p.(Arg17His). Normal very-long-chain fatty acids (VLCFA) levels both in patient and his mother excluded ABCD1 mutation as the pathogenic one. Tripeptidyl peptidase 1 (TPP1) activity was reduced (8,8 U/mg protein/h; reference range: 47.4 ± 10.7). In light microscopy the biopsy specimens obtained from explanted heart showed severe myocyte hypertrophy with perinuclear vacuolization with inclusions. Electron microscopy revealed absence of lipofuscin accumulation, no ultrastructural curvilinear profiles, fingerprint bodies, or granular osmiophilic deposits (GRODs) in lysosomes. As described here, the patient presents clinical symptoms observed in benign forms of ceroid lipofuscinosis type 2 (CLN2) and simultaneously some features of autosomal recessive spinocerebellar ataxia type 7 (SCAR7), which is also caused by mutations in the TPP1 gene.

Clinical analysis of Gilles de la Tourette syndrome based on 126 cases.

BACKGROUND AND PURPOSE: Gilles de la Tourette syndrome (TS) is characterized by the presence of multiple motor and vocal tics, as well as other neuropsychiatric disorders. The aim of the study was to evaluate the frequency of particular clinical symptoms in patients diagnosed with TS. MATERIAL AND METHODS: A hundred twenty-six individuals were studied. A brief questionnaire including data from the medical history and neurological examination was used. RESULTS: TS was much more frequent in males (80%; 101/126) than in females. The mean age at onset was 7.6 (2-17) years. The onset of the disease was usually slow. Abrupt onset of the disease, usually after infection, was noted in 11% (12/114) of patients. The mean delay in diagnosis was 3.9 years. In most patients tics were moderate (64%; 81/126). Mild and severe intensity of tics were reported in 15% (19/126) and 21% (26/126) of patients, respectively. 77% (97/126) of individuals with TS had comorbidities. The mean comorbidity score was 2.79 per patient. Anger control problems, sleep difficulties, self-injurious behaviour and coprolalia were strongly associated with comorbidity. The most common reported comorbidity was attention deficit hyperactivity disorder (59%; 74/126). Family history was positive in 46% (57/125) of patients, most often in TS patients with onset between ages 2 and 4 years (70%; 14/20). Haloperidol was the most commonly used medication in our cohort (60%; 57/95). 22% (27/122) of patients did not receive any symptomatic treatment. CONCLUSIONS: The appropriate diagnosis was delayed for about four years after the onset of the disease. Comorbidity and behavioural problems were frequent features of TS. Genetic factors can play an important role in the aetiology of TS.