Cases reported • Huntington Disease; Huntington Chorea; Juvenile Huntington Disease

1/93. Multimodal imaging of residual function and compensatory resource allocation in cortical atrophy: a case study of parietal lobe function in a patient with Huntington's disease.

In a case of Huntington's disease (HD) with dementia and pronounced parieto-frontal atrophy, the functional state of the affected regions was investigated using functional magnetic resonance imaging (fMRI) and fluorodeoxyglucose-positron emission tomography (FDG-PET). It was observed that although parietal areas showed extensive atrophy and reduced resting glucose metabolism, the patient performed with similar accuracy but with longer response time in a visuospatial task compared with healthy control subjects. At the same time, the blood oxygen level-dependent (BOLD) fMRI signal in these areas, which are involved in visuospatial processing, showed a similar task-dependent modulation as in control subjects. The signal amplitude (signal percent change) of the task-dependent activation was even higher for the HD patient than in the control group. This residual functionality of parietal areas involved in visuospatial processing could account for the patient's performance in the task concerned, which contrasted with his poor performance in other cognitive tasks. The increased percent-signal change suggests that a higher neuronal effort was necessary to reach a similar degree of accuracy as in control subjects, fitting well with the longer reaction time. We propose that fMRI should be considered as a tool for the assessment of functionality of morphologically abnormal cortex and for the investigation of compensatory resource allocation in neurodegenerative disorders.

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2/93. Huntington's disease and alcohol abuse.

The dopamine, glutamate and GABA systems are known to mediate the effects of alcohol on the movement disorders, though their exact roles are not clear. Thus, use of alcohol has implications for pathogenesis as well as management of the movement disorders. These implications are discussed citing a patient who had a strong family history of Huntington's disease and in whom movement disorder and behavioral problems were manifest under alcohol use and withdrawal, but not while being abstinent.

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3/93. A non-typical neuropsychological case presentation of Huntington's disease.

The documentation of Huntington's disease as an autosomal-dominant disorder can be traced to the late 19th century, the first recorded cases as far back as the early 1600s. However, only recently have the neuropsychological correlates of the condition begun to be examined. Contemporary investigators have documented general findings of Huntington's Disease on a variety of cognitive and neuropsychological instruments with the presentation of the disorder generally being consistent from case to case. The purpose of this article is to provide an overview of the neuropsychological findings of Huntington's disease. Published research documenting functional impairments will be reviewed. A case will then be presented illustrating a somewhat non-typical neuropsychological presentation of the disorder.

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4/93. Neuroacanthocytosis masquerading as Huntington's disease: CT/MRI findings.

Neuroacanthocytosis (NA) is a rare, degenerative, presumably autosomal-recessive disorder of the nervous system presenting in adulthood and is associated with acanthocytosis of the peripheral blood. The clinical spectrum of NA shares similarities with Huntington's disease (HD), including dyskinetic choreiform movements and degeneration of the caudate nucleus. A woman presented with choreiform movements and was given a presumed diagnosis of HD. Neuroimaging studies were consistent with HD. She lacked the genetic marker for HD, and further evaluation revealed acanthocytosis of the peripheral blood. The case illustrates the similarities and differences in the clinical presentations and neuroimaging studies of these two disease entities, emphasizing the need for a careful clinical evaluation.

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5/93. Anaesthesia and juvenile Huntington's disease.

Juvenile Huntington's Disease (JHD) is an involuntary movement disorder that comprises both neurological and psychiatric symptoms. Whilst it has many similarities to Huntington's Disease, it is regarded as a separate clinical entity. The anaesthetic plan should be based on careful assessment of the important issues, including the risk of regurgitation and pulmonary aspiration, possible associated autonomic neuropathy, poor respiratory function and the avoidance of precipitating convulsions and clonic spasms. We describe the management of a 12-year-old girl with JHD scheduled for gastroscopy under general anaesthesia necessitating the use of suxamethonium. We suggest an alternative mechanism for the delayed recovery seen in our patient and in other adult case reports.

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6/93. Tourettism as clinical presentation of Huntington's disease with onset in childhood.

Infantile Huntington's disease (HD) shows a wide clinical heterogeneity. Here we describe the case of a child affected by HD who showed unusual neurological features consistent with tourettism. The absence of family history and persisting normal magnetic resonance imaging (MRI) results long after the onset of symptoms delayed the diagnosis of the disease. An MRI exam performed 26 months after disease onset disclosed bilateral atrophy in the putamen, suggesting HD. The diagnosis was confirmed by genetic analysis. The present report underlines the need to consider HD in childhood cases of unusual and even unfamiliar progressive movement disorders.

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7/93. Predictive testing for Huntington's disease: ten years' experience in two Italian centres.

Pre-symptomatic testing for Huntington's disease (HD) has been available as a clinical service in the medical centres of rome and Genoa since December 1987, initially by dna-linkage and since mid-1993 by direct mutation analysis. A multidisciplinary approach and a protocol which follows the Ethical Issue Policy Statement on Huntington's Disease Molecular genetics Predictive Test has been used. In the period under study, 332 subjects requested the test, 288 were enrolled in the protocol and nearly half of these completed it. One hundred and forty-eight people withdrew from the testing procedure for various reasons but most frequently due to a more realistic evaluation of all possible consequences of test results, induced by psychological counselling. Therefore, 140 people completed the test. The overall gene-carrier/non-carrier ratio was 0.46:1. None of the identified gene carriers had catastrophic reactions such as suicide, suicide attempts or major psychiatric disorders. All appear to have had a similar pattern of reactions to an adverse result and none expressed regret for undergoing the test. In conclusion, presymptomatic testing for HD can be considered a safe procedure without adverse consequences when framed in an integrated protocol at qualified genetic centres.

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8/93. De novo expansion of a CAG repeat in a Japanese patient with sporadic Huntington's disease.

A 49-year-old man was admitted to our hospital complaining of dysarthria and involuntary movements of his neck and extremities. He had first begun to experience involuntary neck movements at the age of 40 and his symptoms gradually progressed thereafter. There was no family history of neurological disorders. On admission he showed memory disturbance, dysarthria, and choreic movements. The involuntary movements affected his face, neck, trunk, and extremities. MRI of the brain revealed atrophy of both the cerebral cortex and the head of the caudate nucleus. dna samples for molecular analysis were obtained from the patient and both of his parents. In this pedigree, the father carried a premutated allele of 35 CAG repeats and transmitted an expanded allele of 43 CAG repeats to his son. paternity and maternity were analyzed using a microsatellite marker located in a different chromosome. To our knowledge, this is the first report of a sporadic case of Huntington's disease in a non-caucasian population in which the disease prevalence is much lower than that in the caucasian population. A new mutation in the current Japanese population which shares the same mechanism as de novo mutation in Caucasians may have contributed to the frequency of HD in japan at the present time.

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9/93. The experience of disease: psychosocial aspects of movement disorders.

Chronic neurodegenerative diseases, such as Parkinson's disease or Huntington's disease, have a strong impact on quality of life. Psychosocial problems arise from the disease itself, as well as from those who provide care. When no cure is available, care must take precedence.

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10/93. Transplanted fetal striatum in Huntington's disease: phenotypic development and lack of pathology.

Neural and stem cell transplantation is emerging as a potential treatment for neurodegenerative diseases. Transplantation of specific committed neuroblasts (fetal neurons) to the adult brain provides such scientific exploration of these new potential therapies. Huntington's disease (HD) is a fatal, incurable autosomal dominant (CAG repeat expansion of huntingtin protein) neurodegenerative disorder with primary neuronal pathology within the caudate-putamen (striatum). In a clinical trial of human fetal striatal tissue transplantation, one patient died 18 months after transplantation from cardiovascular disease, and postmortem histological analysis demonstrated surviving transplanted cells with typical morphology of the developing striatum. Selective markers of both striatal projection and interneurons such as dopamine and c-AMP-related phosphoprotein, calretinin, acetylcholinesterase, choline acetyltransferase, tyrosine hydroxylase, calbindin, enkephalin, and substance p showed positive transplant regions clearly innervated by host tyrosine hydroxylase fibers. There was no histological evidence of immune rejection including microglia and macrophages. Notably, neuronal protein aggregates of mutated huntingtin, which is typical HD neuropathology, were not found within the transplanted fetal tissue. Thus, although there is a genetically predetermined process causing neuronal death within the HD striatum, implanted fetal neural cells lacking the mutant HD gene may be able to replace damaged host neurons and reconstitute damaged neuronal connections. This study demonstrates that grafts derived from human fetal striatal tissue can survive, develop, and are unaffected by the disease process, at least for 18 months, after transplantation into a patient with HD.

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