摘要:

AbstractDentatorubropallidoluysian atrophy (DRPLA) has been described chiefly in Japan and appears to be rare in Europe. It is of autosomal dominant inheritance. We report the first British family with DRPLA, which contains four affected individuals in two generations. The diagnosis was made at autopsy in one case. The age of onset of symptoms ranged from 15 to 38 years, and clinical features included ataxia, dementia, chorea, and dystonia; three patients had generalized seizures. The three living patients resemble those with early Huntington's disease clinically. Three main phenotypes of DRPLA have been proposed: an ataxo‐choreoathetoid type, a pseudo‐Huntington type, and a myoclonic epilepsy type. The variation in clinical presentation in our family demonstrates the difficulty in applying such classifications to this and other dominantly inherited disorders with phenotypic variation. DRPLA is likely to be confused with Huntington's disease in European famil

ISSN:0885-3185    

DOI:10.1002/mds.870090302

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1994

数据来源: WILEY

摘要:

AbstractIn this article we describe the neuropathological changes in three patients with neuroacanthocytosis and review the neuropathology of the other eight cases reported in the literature. Macroscopically the brains showed enlargement of the lateral ventricles, especially the frontal horns. The most severely and consistently affected brain areas were the caudate nucleus and putamen, which were atrophic and showed by light microscopy marked neuronal loss and gliosis. Small and medium‐sized striatal neurons were particularly depleted. The globus pallidus was almost as severely involved as the striatum. In some cases the thalamus, substantia nigra, and anterior horns of the spinal cord showed pathology, mainly neuronal loss and mild gliosis. Brain areas with no pathology included the subthalamic nucleus, cerebral cortex, cerebellum, pons, and medulla. The preservation of these areas may help in the neuropathological distinction of neuroacanthocytosis from Huntington's diseas

ISSN:0885-3185    

DOI:10.1002/mds.870090303

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1994

数据来源: WILEY

摘要:

AbstractParkinson's disease (PD) is a common neurodegenerative disorder caused by loss of dopaminergic neurons in the brainstem. Recent studies suggest that several genes may have a role in determining individual susceptibility to this disease, and the degradative enzyme monoamine oxidase (MAO) has been implicated in the disease process. Wide differences in activity levels for both forms of this enzyme (MAO‐A and MAO‐B) exist in the human population, and levels of both are genetically determined. Here we have compared the frequency of haplotypes at theMAOAandMAOBloci on the X chromosome in 91 male patients with PD and 129 male controls. Alleles were marked using two restriction fragment length polymorphisms (RFLPs), a (GT)n repeat in theMAOAlocus, and a (GT)n repeat in theMAOBlocus. One particular haplotype marked by the RFLP's atMAOAwas three times more frequent in patients with PD as compared with controls, and the overall distribution of these alleles was significantly different (p =0.03) between these two groups. AnotherMAOAhaplotype was about threefold more common in controls than in patients with PD (p = 0.005). No associations were observed between individualMAOBalleles and the disease state, but the frequency distribution for all alleles was significantly different in the two populations (p = 0.046). These findings support the idea that the MAO genes may be among the herediatary factors that influence susceptibility of individuals to

ISSN:0885-3185    

DOI:10.1002/mds.870090304

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1994

数据来源: WILEY

摘要:

AbstractWe examined the motor performance of Parkinson's disease patients and normal subjects during nonrepetitive and repetitive sequential tasks. Parkinson's disease patients took longer than normal subjects to Complete the nonrepetitie task, the sequential drawing of a pentagon. In patients, movement times lengthened as the sequence neared completion. The amount of lengthening was similar in nonrepetitive and repetitive tasks (sequential alternating drawing of each side of the pentagon). In parkinsonian patients the slowing at the end of the sequential tasks does not appear to be influenced by whether the sequential task involes nonrepetitive or repetitive movements.

ISSN:0885-3185    

DOI:10.1002/mds.870090305

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1994

数据来源: WILEY

摘要:

AbstractTalipexole is a new dopamine autoagonist with putative preferential activity on presynaptic dopamine receptors. In a double‐blind, placebocontrolled study, we tested the drug's safety and efficacy in 13 adult men with Gilles de la Tourette's syndrome. The drug was poorly tolerated because of clinically significant sedation and dizziness. Tics did not improve at tolerable doses. These findings suggest that talipexole has no role in the regular management of tic disorder

ISSN:0885-3185    

DOI:10.1002/mds.870090306

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1994

数据来源: WILEY

摘要:

AbstractWe report a patient with Lubag (X‐linked dystonia‐parkinsonism) who presented with severe respiratory stridor form adductor laryngeal breathing dystonia. Emergency tracheostomy was necessary, and subsequent laryngeal injection with botulinum toxin led to worsening aspiration. Botulinum toxin injection for severe lingual dystonia was success

ISSN:0885-3185    

DOI:10.1002/mds.870090307

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1994

数据来源: WILEY

摘要:

AbstractAmong the tardive dyskinesia syndromes, dystonia can be the most difficult to treat. It may be severe to the point of being disabling, yet the patients may require antipsychotic medications for an even more disabling psychosis. Clozapine, an atypical neuroleptic drug that lacks extrapyramidal effects, may be the drug of choice for such patients. This report describes three patients with significant dystonia, previously disabled by their psychoses, who have been successfully manged with clozapine plus other agents for>3 years.

ISSN:0885-3185    

DOI:10.1002/mds.870090308

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1994

数据来源: WILEY

摘要:

AbstractA 63‐year‐old man presented with an 11‐month history of progressive myoclonus in the right abdominal wall. Administration of clonazepam reduced the frequency and amplitude. When the therapy was discontinued, the frequency and amplitude of the myoclonus increased, and synchronous and weak myoclonus also was observed in the left abdomen. The trunk was twisted just after the appearance of the abdominal myoclonus associated with myoclonic jerks spreading from the rostral to caudal paraspinal muscles. Later in the clinical course, the myoclonus became stimulus sensitive and was induced by tendon tap given anywhere on the body, with the latency ranging from 50 to 150 ms irrespective of the sites of tapping. Myoclonus seen in the abdominal wall was segmental and considered to be of spinal origin. The reflex myoclonus had a 150‐ms refractory period. It can be postulated that increased excitability of anterior horn cells at a certain segment might make a spino‐bulbo‐spinal reflex manifest at the corresponding segment. This myoclonus is considered to be a new form of spinal reflex myoclonus, because the abdominal myoclonic jerk seems to trigger another myoclonic jerk involving the paraspi

ISSN:0885-3185    

DOI:10.1002/mds.870090309

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1994

数据来源: WILEY

摘要:

AbstractTwo brothers developed hemifacial spasm at 63 and 70 years of age. Spasms occurred on the left and right sides of the face, respectively. Computed tomography scan and magnetic resonance imaging failed to show any abnormality. In addition, a third sibling reported a history of a peripheral facial palsy, which remitted spontaneously without sequelae. This is the fourth description of familial hemifacial spasms. This family is unique in that hemifacial spasm presented on different sides in the two brothers, and involvement was limited to one generation. Age at onset was later than for other familial cases and similar to sporadic cases.

ISSN:0885-3185    

DOI:10.1002/mds.870090310

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1994

数据来源: WILEY

摘要:

AbstractCranial computer tomographic (CT) images of 33 patients with multiple system atrophy (MSA) and of 40 age‐matched controls were blindly analyzed by two neuroradiologists. All patients had autonomic dysfunction, all but one had parkinsonism, and 13 had cerebellar signs. The scans were judged entirely normal in 21%. Moderate or severe infratentorial atrophy was found in 42%. Cerebellar atrophy was present in 39%, and pontine atrophy was present in 18%. Of the 13 patients with cerebellar signs, only eight had cerebellar atrophy. Of the 20 patients without cerebellar signs, five had cerebellar atrophy. Supratentorial involvement was much less common and less severe. Thus, CT demonstrated system involvement that was not evident clinically in five of 33 cases (15%). However, in all five the clinical diagnosis was already evident from the presence of both autonomic and pyramidal signs in addition to parkinsonism. We conclude that CT imaging is of limited diagnostic use in individual patients with MS

ISSN:0885-3185    

DOI:10.1002/mds.870090311

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1994

数据来源: WILEY