1/25. An autopsy case with clinically and molecular genetically diagnosed Huntington's disease with only minimal non-specific neuropathological findings.An autopsy case with clinically and molecular genetically diagnosed Huntington's disease (HD) accompanied with minimal non-specific neuropathological features was reported. When the patient was 45 years old, he had faulty memory, mood swing, personality change and agitation. Neurological and psychiatric examinations revealed choreoathetoid movements in limbs and trunk, generalized hyperreflexia and mental deterioration. However, cerebellar ataxia and muscle rigidity were not disclosed. neuroimaging study did not show a definite atrophy of heads of caudate nuclei. neuroacanthocytosis and Wilson's disease were ruled out by the peripheral blood examination and serum Cu and ceruloplasmin examination. At the age of 55 he died of pneumonia. Post-mortem examination revealed minimal non-specific neuropathological features for HD (Vonsattel's grade 0), that is, no visible fibrillary gliosis in the striatum, and few neuronal loss and only proliferation of astrocytes (astrocytosis) in the striatum. Molecular-genetic study the patient's brain tissues and his youngest son's blood was performed. These studies revealed 40 CAG repeats in the patient, 56 CAG repeats in his youngest son. These results suggest they may be HD. Vonsattel et al. [ 1998] insist that grade 0 comprises 1% of all HD brains, and grade 1 comprises 4% of all HD brains. But we could not find any reports in which the clinical and neuropathological features were described in detail on the cases with clinically and molecular genetically diagnosed HD without specific pathological findings. Therefore, we present in detail the clinical and neuropathological features of such case.- - - - - - - - - - ranking = 1keywords = rigidity (Clic here for more details about this article) |
2/25. Implant-supported denture in a patient with Huntington's disease: interdisciplinary aspects.patients with extrapyramidal diseases often cannot maintain independent, efficient oral hygiene due to restricted motor ability of the upper extremities and lack of coordination. The hermetic closure of the mouth and lips, and the associated ability to keep liquid and toothpaste in the mouth, can become so weak that effective oral hygiene cannot be maintained. Over a period of many years, this illness leads to loss of teeth and the need for complete prosthodontic care. Dyskinesia and hyperkinesia of the tongue and the peri-oral musculature, combined with xerostomia and pooling of saliva, make it impossible for the patient to wear a conventional complete denture, despite an anatomically-adequate bearing area. In such cases, an implant-supported prosthesis is a better therapeutic measure, although some aspects of oral hygiene must initially be disregarded. Two ITI implants were inserted into the anterior mandibular region of a patient with Huntington's chorea, because a complete denture could not be retained on the alveolar ridge, despite adequate vestibule depth, due to tongue dyskinesia. A bar joint was used to anchor this mucosal-borne denture. This implant-supported complete denture led to a clear improvement in the patient's chewing function when observed over a period of a year.- - - - - - - - - - ranking = 0.015859682286758keywords = extrapyramidal (Clic here for more details about this article) |
3/25. 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 = 2keywords = rigidity (Clic here for more details about this article) |
4/25. 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 = rigidity (Clic here for more details about this article) |
5/25. 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 = rigidity (Clic here for more details about this article) |
6/25. huntington disease: a case study of early onset presenting as depression.huntington disease is a dominantly inherited, neurodegenerative disease characterized by choreiform movement disturbances and dementia, usually with adult onset. The rare juvenile-onset huntington disease differs from the adult phenotype. A case presenting twice, at age 10 with all the signs of a major depression and age 14 with mutism and rigidity, is reported. Meanwhile, the father developed the adult variant of huntington disease. The boy's diagnosis was confirmed by molecular genetic analysis and magnetic resonance imaging. It is important to be aware of hereditary conditions such as huntington disease and to provide family counseling before genetic testing and after the diagnosis is confirmed.- - - - - - - - - - ranking = 1keywords = rigidity (Clic here for more details about this article) |
7/25. Computerized tomography in hereditary nonprogressive chorea.A 56-year-old woman had a 50-year history of childhood-onset chorea without progressive neurologic deficit. The patient's father had a lifelong extrapyramidal disorder characterized by a head-nodding tremor and involuntary movements especially evident with anxiety. The computerized tomographic scan was normal, without evidence of cortical or caudate atrophy. The computerized tomographic scan supports the notion of a functional rather than a structural lesion, and may aid in the discrimination of hereditary nonprogressive chorea from more devastating forms of hereditary chorea.- - - - - - - - - - ranking = 0.015859682286758keywords = extrapyramidal (Clic here for more details about this article) |
8/25. Electroencephalographic correlate of juvenile Huntington's disease.The spectrum of clinical disease in juvenile Huntington's disease differs from that seen in adults. Younger patients often present with seizures, dystonia and rigidity. The mechanism and type of seizures, timing of onset and electrographic features have not been well characterized in either adults or children. We describe the electroencephalographic findings observed in a young child with Huntington's disease who presented with motor regression and seizures. Recordings demonstrated bilateral posterior quadrant epileptiform discharges and occipital intermittent rhythmic delta activity, generally considered a nonspecific abnormality. These findings have not been reported in adult or juvenile Huntington's disease. Its presence in proximity to bilateral posterior spikes suggests that occipital intermittent rhythmic delta activity is an epileptiform abnormality, on a continuum with the posterior spike-and-wave discharges. Intermittent rhythmic delta activity can occur secondary to either the subcortical gray-matter disease or the associated seizure disorder. Huntington's disease should be considered in the differential diagnosis of young children who present with seizures and developmental regression.- - - - - - - - - - ranking = 1keywords = rigidity (Clic here for more details about this article) |
9/25. Familial inverted choreoathetosis.We present a family with infantile onset of progressive choreoathetosis. The movements affected the legs predominantly and also impaired gait. No dementia, seizures, or rigidity was noted. Inheritance was autosomal dominant. This new familial movement disorder can be differentiated easily from other hereditary choreas.- - - - - - - - - - ranking = 1keywords = rigidity (Clic here for more details about this article) |
10/25. Levetiracetam-induced parkinsonism in a huntington disease patient.The authors present a man with huntington disease who was treated with levetiracetam (Keppra) in an effort to reduce chorea. chorea was markedly reduced, but the patient developed parkinsonism and lethargy after 6 weeks of treatment. Symptoms consisted of resting tremor, rigidity, increased dystonia, and gait difficulty. Side effects from levetiracetam resolved completely within 7 days of levetiracetam discontinuation, and chorea returned to baseline.- - - - - - - - - - ranking = 1keywords = rigidity (Clic here for more details about this article) |
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