Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0013421 (dystonia)
 8,418 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Bipolar disorders occurred in 3 of 15 (20%) subjects after focal cerebellar circuit lesions. Two presented with rapid cycling bipolar disorder and dystonia, including one with a checking compulsion. Lesions included right cerebellar hypoplasia (bipolar disorder), bilateral cerebellar atrophy (rapid cycling unipolar mania and dystonia), and left midbrain pathology (mixed bipolar disorder, dystonia, and compulsion). Bipolar disorders were associated with cerebellar circuit pathology (p = 0.032) and were more prevalent than in population controls (p = 0.004). Diminished cerebellar output (to cortical, thalamic, basal ganglia, limbic, or other circuits) or nigral pars reticulata dysfunction may result in abnormal neuronal oscillation in bipolar disorders, especially rapid-cycling types, or in dystonia. Review of the literature supports the concept of nigral and cerebellar direct and indirect connections with thalamofrontotemporal and basal ganglia circuits in bipolar disorders, dystonia, and compulsions, as well as possible clinical relationships between these disorders.
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PMID:Bipolar disorders, dystonia, and compulsion after dysfunction of the cerebellum, dentatorubrothalamic tract, and substantia nigra. 889 64

The dystonias are a common clinically and genetically heterogeneous group of movement disorders. More than ten loci for inherited forms of dystonia have been mapped, but only three mutated genes have been identified so far. These are DYT1, encoding torsin A and mutant in the early-onset generalized form, GCH1 (formerly known as DYT5), encoding GTP-cyclohydrolase I and mutant in dominant dopa-responsive dystonia, and TH, encoding tyrosine hydroxylase and mutant in the recessive form of the disease. Myoclonus-dystonia syndrome (MDS; DYT11) is an autosomal dominant disorder characterized by bilateral, alcohol-sensitive myoclonic jerks involving mainly the arms and axial muscles. Dystonia, usually torticollis and/or writer's cramp, occurs in most but not all affected patients and may occasionally be the only symptom of the disease. In addition, patients often show prominent psychiatric abnormalities, including panic attacks and obsessive-compulsive behavior. In most MDS families, the disease is linked to a locus on chromosome 7q21 (refs. 11-13). Using a positional cloning approach, we have identified five different heterozygous loss-of-function mutations in the gene for epsilon-sarcoglycan (SGCE), which we mapped to a refined critical region of about 3.2 Mb. SGCE is expressed in all brain regions examined. Pedigree analysis shows a marked difference in penetrance depending on the parental origin of the disease allele. This is indicative of a maternal imprinting mechanism, which has been demonstrated in the mouse epsilon-sarcoglycan gene.
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PMID:Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome. 1152 94

We herein report a Japanese patient with megalencephalic leukoencephalopathy with subcortical cysts (MLC) who developed late-onset neuropsychological symptoms. He demonstrated characteristic clinical features of MLC during childhood, such as slowly progressive megalencepaly, motor impairment with ataxia and spasticity, mild mental retardation, and well-controlled epilepsy. Thereafter, he showed specific neuropsychological symptoms, such as motor and vocal tics, compulsive behavior, perseveration, acquired stuttering, and dystonia since the age of 12. His performance abilities had been unchanged but his verbal abilities had degraded during the past 14 years. Higher cortical dysfunction tests revealed a frontal lobe dysfunction. On repeated brain MRI, a leukoencephalopathy with subcortical cysts remained stationary from infancy. On single photon emission computed tomography (SPECT), a hypoperfusion in the frontal lobe was detected at the age of 3.5 and 17, but the severity of hypoperfusion was also unchanged, respectively. Our results indicate that the frontal lobe dysfunction may be relevant to the late-onset neuropsychological symptoms with MLC.
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PMID:Late-onset neuropsychological symptoms in a Japanese patient with megalencephalic leukoencephalopathy with subcortical cysts. 1723 7

Wilson's disease (WD) is a genetic neurodegenerative disorder; it exhibits wide heterogeneity in symptoms and usually presents with liver disease and/ or neuropsychiatric manifestations. The common neurological manifestations observed are dysarthria, gait disturbance, dystonia, rigidity, tremor, dysphagia and chorea. The frequent psychiatric manifestations reported are personality and mood changes, depression, phobias, cognitive impairment, psychosis, anxiety, compulsive and impulsive behavior. Isolated obsessive-compulsive disorder (OCD) is a rare presentation of WD. Reported herein is a case of a 17-year-old boy with isolated OCD. He presented to the psychiatrist with symptoms of contamination obsessions and washing compulsions, along with compulsion of repeated feet tapping and was treated with adequate doses of fluoxetine for 6 months but did not improve. Later on, he was diagnosed as a case of WD and showed improvement with chelating and behavior therapy. This implies the importance of the occurrence of isolated psychological symptoms in WD.
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PMID:Wilson's disease presenting as isolated obsessive-compulsive disorder. 1802 47

More than a half of patients with OCD are classified as early-onset. Early-onset OCD has been indicated to be associated with a greater OCD global severity and more frequently comorbid with tic disorders and other obsessive-compulsive (OC) spectrum disorders, compared with late-onset OCD. Early-onset OCD patients with severe impairment caused by both OC symptoms and comorbid OC spectrum disorders may be identified as being refractory. Tic disorders and autism spectrum disorder (ASD) are child and adolescent psychiatric disorders included in OC spectrum disorders. OCD comorbid with chronic tic disorders including Tourette syndrome (TS) is specified as tic-related OCD. Tic-related OCD is characterized by the high prevalence of early-onset and sensory phenomena including "just right" feeling. Self-injurious behaviors (SIB) such as head banging and body punching often occur in patients with TS. The patients' concern about SIB is likely to trigger them, suggesting that an impulse-control problem is a feature of TS. More than a half of patients with TS have OC symptoms. When OC symptoms in patients with TS were assessed with a dimensional approach, symmetry dimension symptoms were found most frequently over the lifetime. On the other hand, the severity of aggression dimension symptoms was the most stable during the course among all dimensions. Aggression dimension symptoms also exhibited a close relationship with impairment of global functioning and sensory phenomena. This tendency may be characteristic of tic-related OCD. It is sometimes difficult to differentiate between OC symptoms and restricted, repetitive behaviors which are core symptoms of ASD. Recently, ego-dystonia and insight are considered non-essential to diagnose OCD, whereas high-functioning and/or atypical ASD is recognized as being more prevalent than previously estimated. In this situation, attention to comorbidity of OCD and ASD is increasing, and the prevalence of OCD in children and adolescents with ASD was reported to be about 20%. One study on the impact of comorbid ASD in adults with OCD indicated that comorbid patients had higher scores for the Autism Questionnaire (AQ) subscales of attention switching and imagination but showed little difference in OC symptoms except for the predominance of compulsion compared to patients with pure OCD. "Just right" feeling and impulse-control problems were evident in OC patients comorbid with both ASD and TS. Out of five adults with TS who underwent deep brain stimulation (DBS) because of refractory tics, four had impulse-control problems including SIB, leading to very severe physical injuries in two patients. After DBS, tics and SIB improved in all patients; however, one patient experienced their re-aggravation. To improve understanding of and treatment/support for refractory OCD, OC spectrum disorders should also be considered.
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PMID:[Treatment-refractory OCD from the viewpoint of obsessive-compulsive spectrum disorders: impact of comorbid child and adolescent psychiatric disorders]. 2422 77

Neurodegeneration with brain iron accumulation (NBIA) is a group of genetic disorders with a progressive extrapyramidal syndrome and excessive iron deposition in the brain, particularly in the globus pallidus and substantia nigra. We present the case of a 31-year-old woman with mitochondrial protein associated neurodegeneration (MPAN). MPAN is a new identified subtype of NBIA, caused by mutations in C19orf12 gene. The typical features are speech and gait disturbances, dystonia, parkinsonism and pyramidal signs. Common are psychiatric symptoms such as impulsive or compulsive behavior, depression and emotional lability. In almost all cases, the optic atrophy has been noted and about 50% of cases have had a motor axonal neuropathy. In the MRI on T2- and T2*-weighted images, there are hypointense lesions in the globus palidus and substantia nigra corresponding to iron accumulation.
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PMID:Mitochondrial protein associated neurodegeneration - case report. 2463 76