11/305. Late onset levodopa responsive Huntington's disease with minimal chorea masquerading as Parkinson plus syndrome. Huntington's disease is characterised by hyperkinetic movements, mainly chorea, cognitive dysfunction, and psychiatric abnormalities. Non-dopa responsive parkinsonism occurs in the later stages of choreic disease or as the predominant feature of juvenile patients (Westphal variant). Late onset Huntington's disease presenting as levodopa responsive parkinsonism is rare. A series of four patients with late onset Huntington's disease presenting as levodopa responsive parkinsonism and cardiovascular dysautonomia, initially misdiagnosed as multiple system atrophy (MSA) in three patients, is reported. levodopa treatment did not unmask significant chorea. These cases suggest the presence of a distinct phenotypic variant of Huntington's disease to be added to the differential diagnosis of other akinetic rigid syndromes. ( info) |
12/305. 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. ( info) |
13/305. brain SPECT imaging in Huntington's disease before and after therapy with olanzapine. Case report. Olanzapine, an atypical antipsychotic drug, was administered to a patient with Huntington's disease (HD) with marked choreiform movements. brain SPECT with 99mTc-HMPAO was performed before and after treatment. brain SPECT imaging has been performed in patients with HD in order to determine the status of basal ganglia perfusion. The use of brain SPECT with 99mTc-HMPAO before and after treatment in patients with HD has not been yet reported. The marked hypoperfusion of the basal ganglia on brain SPECT performed before therapy with olanzapine improved significantly after treatment. ( info) |
14/305. Juvenile Huntington's disease confirmed by genetic examination in twins. Early-onset Huntington's disease (HD) occurs in approximately 10% of HD's cases. We report juvenile HD in phenotypically identical twins, evaluated by history, clinical and neurologic examination, minimental state examination, blood laboratory exams, cerebrospinal fluid examination, skull computed tomography, and genetic examination for HD. patients had the akinetic-rigid variety (Westphal variant) of the disease and paternal inheritance. The laboratory workup confirmed the clinical diagnosis of HD, which adds this report to the rare cases of HD in twins reported in the literature. ( info) |
15/305. Null alleles at the huntington disease locus: implications for diagnostics and CAG repeat instability. PCR amplification of the CAG repeat in exon 1 of the IT15 gene is routinely undertaken to confirm a clinical diagnosis of huntington disease (HD) and to provide predictive testing for at-risk relatives of affected individuals. Our studies have detected null alleles on the chromosome carrying the expanded repeat in three of 91 apparently unrelated HD families. sequence analysis of these alleles has revealed the same mutation event, leading to the juxtaposition of uninterrupted CAG and CCG repeats. These data suggest that a mutation-prone region exists in the IT15 gene bounded by the CAG and CCG repeats and that caution should be exercised in designing primers that anneal to the region bounded by these repeats. Two of the HD families segregated null alleles with expanded uninterrupted CAG repeats at the lower end of the zone of reduced penetrance. The expanded repeats are meiotically unstable in these families, although this instability is within a small range of repeat lengths. The haplotypes of the disease-causing chromosomes in these two families differ, only one of which is similar to that reported previously as being specific for new HD mutations. Finally, no apparent mitotic instability of the uninterrupted CAG repeat was observed in the brain of one of the HD individuals. ( info) |
16/305. 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. ( info) |
17/305. 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. ( info) |
18/305. Psychiatric presentation of Huntington's disease in a Malaysian family. A 32-year-old Chinese lady presented to the Psychiatric Clinic with a history of change in personality for 2 years and abnormal movements for a year. After thorough investigations and observation a diagnosis of Huntington's Disease was made. Her elder brother was traced and found to have Huntington's Disease as well. He had a long standing history of antisocial behaviour and substance abuse long before the onset of the choreiform movements. Her younger brother also has choreiform movements for the last 2 years and had recent change in personality. Their mother also had abnormal movements and was recorded to be depressed and attempted suicide. The maternal grandfather had a mental illness and was warded at a mental institution till his death in 1942. Psychiatric presentation of Huntington's Disease in this Malaysian family is prominent and preceded the characteristic movements in the present generation. ( info) |
19/305. Sevoflurane and mivacurium in a patient with Huntington's chorea. There is little experience of anaesthesia for patients with Huntington's chorea. These patients have an increased risk of intraoperative complications such as pulmonary aspiration. We present the successful anaesthetic management of a 17-yr-old patient suffering from Huntington's chorea requiring urgent appendectomy. After rapid-sequence induction with thiopental 400 mg and succinylcholine 100 mg, anaesthesia was maintained with sevoflurane. For maintenance of neuromuscular blockade mivacurium 10 mg was administered and repeated 15 min later. Except for a short episode of postoperative shivering, the perioperative course was uneventful. Sevoflurane and mivacurium were used safely and effectively in this patient. ( info) |
20/305. The first identified French family with dentatorubral-pallidoluysian atrophy. We report the first French family with dentatorubral-pallidoluysian atrophy (DRPLA) in which three members, a 36-year-old woman (proband), her 34-year-old sister, and 14-year-old brother were affected. There was no family history of DRPLA and their father presented at age 66 with pes cavus but without any other neurologic symptoms. Molecular analysis of the DRPLA gene from blood leukocytes showed CAG repeat sizes to be 68/16 in the proband, 62/15 in her father, and 16/16 in her mother. This study provides support for the variable clinical presentation of this disease with incomplete penetrance in the father and demonstrates that DRPLA can be observed in the French Caucasian population. ( info) |