1/7. Unusual early-onset Huntingtons disease.Huntington's disease is an autosomal dominant progressive neurodegenerative disorder characterized by involuntary movements, cognitive decline, and behavioral disorders leading to functional disability. In contrast to patients with adult onset, in which chorea is the major motor abnormality, children often present with spasticity, rigidity, and significant intellectual decline associated with a more rapidly progressive course. An unusual early-onset Huntington's disease case of an 11-year-old boy with severe hypokinetic/rigid syndrome appearing at the age of 2.5 years is presented. Clinical diagnosis was confirmed by polymerase chain reaction study of the expanded IT-15 allele with a compatible size of 102 cytosine-adenosine-guanosine repeats L-Dopa mildly ameliorated rigidity, bradykinesia, and dystonia. We conclude that Huntington's disease should be included in the differential diagnoses of regressive syndromes of early childhood.- - - - - - - - - - ranking = 1keywords = bradykinesia (Clic here for more details about this article) |
2/7. amantadine in the akinetic-rigid variant of Huntington's disease.OBJECTIVE: To report the effects of amantadine on an akinetic-rigid variant of Huntington's disease (HD). CASE SUMMARY: We describe a 36-year-old woman with HD who was treated with intravenous amantadine for 5 days. The woman was evaluated with the Unified Huntington's Disease Rating Scale before and after treatment. Parkinsonism, bradykinesia, and dystonia improved significantly. DISCUSSION: amantadine is a noncompetitive N-methyl d-aspartate receptor antagonist. It is mainly used in the treatment of Parkinson's disease, as it increases dopamine levels in the brain. This effect is said to ameliorate akinesia. Although the effect of amantadine on choreatic dystonia in HD has been reported in several studies, to the best of our knowledge, this is the first report of the ameliorative effects of amantadine on the rigid form of HD. Our patient showed improvements of gait, parkinsonism, and dystonia. Fine-motor tasks and eye movement did not change significantly. CONCLUSIONS: We suggest that amantadine treatment might be of value to patients with the akinetic-rigid variant of HD.- - - - - - - - - - ranking = 1keywords = bradykinesia (Clic here for more details about this article) |
3/7. Markedly asymmetrical parkinsonism as a leading feature of adult-onset Huntington's disease.We report on a 28-year-old man who presented with right hand tremor, bradykinesia, and rigidity of his right side extremities. Our case report emphasizes that markedly asymmetrical parkinsonism can be an initial presentation of adult-onset Huntington's disease (HD), and different clinical presentations can be observed in members of an individual HD family with the same CAG repeat length.- - - - - - - - - - ranking = 1keywords = bradykinesia (Clic here for more details about this article) |
4/7. Early onset huntington disease: a neuronal degeneration syndrome.huntington disease (HD) is an autosomal dominant, lethal neurodegenerative disorder of the central nervous system, caused by an uncontrolled expansion of a CAG dynamic mutation in the coding region of the IT15gene. Although a majority of patients have a midlife onset of the disease, in a small number of patients the disease manifests before 20 years of age. In adults, HD is mainly characterised by involuntary movements, personality changes and dementia. By contrast, in children a dominant picture of bradykinesia, rigidity, dystonia and epileptic seizures is noticed. The earlier onset is often associated with a paternal transmission of the disease allele to the offspring. We report here a rather unusual infantile onset of the disease in a little girl who presented with a history of seizures and psychomotor regression starting at the age of 3 years. A progressive cortical-subcortical atrophy, progressive cerebellar atrophy and lesions in the basal ganglia were found on MRI. An important expansion, of 214 triplet numbers, of the CAG repeat size associated with HD, was observed. Conclusion: Juvenile Huntingdon disease should be considered in children suffering from a progressive neurodegenerative disease.- - - - - - - - - - ranking = 1keywords = bradykinesia (Clic here for more details about this article) |
5/7. Clinical characteristics of childhood-onset (juvenile) huntington disease: report of 12 patients and review of the literature.Whereas adult-onset huntington disease is a well-characterized clinical entity, childhood-onset cases have not received as much attention. In this report, the clinical, demographic, and genetic characteristics in 12 patients with childhood-onset huntington disease are presented and compared with data in the literature. The patients were divided into two groups based on age at onset of symptoms (< 10 or > or = 10 years old). The majority of patients had onset of symptoms before 10 years of age and most at or below 5 years of age. The delay in diagnosis was longer in those with earlier onset of symptoms. Inheritance was paternal in all patients with onset beyond 10 years of age. We found a preponderance of male patients in the younger age at onset group and of female patients in the older age at onset group. The most frequent heralding symptom was cognitive decline in the group with earlier onset and oropharyngeal dysfunction in the later-onset group. seizures occurred only in the younger age at onset group. chorea was not a presenting sign but developed later in the course of the disease and, with dystonia, was more prevalent in the early age at onset group, whereas rigidity and bradykinesia were more prevalent in the older age at onset group. patients in both groups developed gait, cognitive, and behavioral disorders at some point during the course of the disease. Furthermore, a slow and steady decline in IQ was observed on serial neuropsychologic testing in patients from both groups. Imaging studies were normal early and most commonly revealed neostriatal atrophy later in the course of the disease. In this report, we describe the characteristics of 12 patients with childhood-onset huntington disease and review those previously reported, expanding our knowledge about the features of childhood-onset huntington disease, underlining the differences with patients with adult-onset huntington disease, and suggesting a differential phenotype within patients with childhood-onset huntington disease depending on the age at onset.- - - - - - - - - - ranking = 1keywords = bradykinesia (Clic here for more details about this article) |
6/7. levodopa responsive parkinsonism in an adult with Huntington's disease.A patient is reported on with Huntington's disease who, as an adult, first developed severe parkinsonism with bradykinesia, rigidity, postural instability and festinating gait. His clinical signs were similar to those of the Westphal variant of Huntington's disease except that he also had resting tremor and a supranuclear gaze palsy. magnetic resonance imaging showed caudate and putamen atrophy. Genetic analysis disclosed 49 triple CAG repeats in allele 1 and 17 in allele 2 confirming the diagnosis of Huntington's disease. Treatment with levodopa produced substantial functional motor improvement with a 17 point reduction in the unified Parkinson's disease rating scale (UPDRS) motor subscale including reduction of tremor, bradykinesia, and postural instability. This is the first report of a patient with adult onset Huntington's disease with parkinsonism responsive to levodopa.- - - - - - - - - - ranking = 2keywords = bradykinesia (Clic here for more details about this article) |
7/7. Juvenile Huntington's disease: report of one case.Huntington's disease (HD) is caused by mutation of the IT 15gene (chromosome 4p16.3), with elongation of (CAG) n repeats. Most juvenile huntington disease patients acquire the genetic defect through paternal transmission due to amplification of the repeat number during spermatogenesis, and thus causing early age of disease onset and increased disease severity. We here report one case that instead of choreoathetosis presents symptoms of developmental regression, such as seizure and rigid/bradykinesia. EEG showed occipital dominant 4-5 Hz high-amplitude spike-wave activities. MRI showed advanced atrophy and abnormal increase in signal intensity on T2-weighted and proton-density-weighted images of the caudate nuclei and putamina early in the course. The clinical diagnosis is confirmed by PCR study of HD (CAG) n repeats. This is the first case of juvenile Hunington's disease reported in taiwan.- - - - - - - - - - ranking = 1keywords = bradykinesia (Clic here for more details about this article) |