Clinical research criteria for the diagnosis of progressive supranuclear palsy (Steele-Richardson-Olszewski syndrome): report of the NINDS-SPSP international workshop.

To improve the specificity and sensitivity of the clinical diagnosis of progressive supranuclear palsy (PSP, Steele-Richardson-Olszewski syndrome), the National Institute of Neurological Disorders and Stroke (NINDS) and the Society for PSP, Inc. (SPSP) sponsored an international workshop to develop an accurate and universally accepted set of criteria for this disorder. The NINDS-SPSP criteria, which were formulated from an extensive review of the literature, comparison with other previously published sets of criteria, and the consensus of experts, were validated on a clinical data set from autopsy-confirmed cases of PSP.

Depression in multiple system atrophy and in idiopathic Parkinson's disease: a pilot comparative study.

Multiple system atrophy (MSA) is a disease causing parkinsonism in which response to levodopa is classically absent, poor, or transient. Idiopathic Parkinson's disease (IPD) itself, which responds favorably to levodopa, has been associated with the development of disease-related depression. Over and above the clinical and pathological characteristics of IPD, MSA causes additional, more widespread, clinical and pathological deficits.

Ataxia without telangiectasia masquerading as benign hereditary chorea.

We report a nonconsanguineous family in whom two (of three) sons developed isolated chorea in early childhood, suggesting a diagnosis of benign hereditary chorea (BHC). However, cerebellar ataxia and oculomotor apraxia, without telangiectasia, subsequently developed. Chromosome analysis showed increased radiosensitivity in both brothers and translocations in the younger one.

Olivopontocerebellar pathology in multiple system atrophy.

Olivopontocerebellar atrophy (OPCA) is widely accepted as part of the neuropathological spectrum of multiple system atrophy (MSA). The distribution of affected sites in the olivopontocerebellar (OPC) system and their interrelationship remain poorly understood due to lack of quantitative studies. To further investigate the OPC pathology in MSA, we performed a morphometric analysis of 20 MSA cases and eight healthy controls.

Core Assessment Program for Intracerebral Transplantation in Huntington's Disease (CAPIT-HD).

Studies in Parkinson's disease using the Core Assessment Program for Intracerebral Transplantation (CAPIT) protocol have demonstrated that grafts of embryonic mesencephalic cells into striatum can survive, grow, and exert useful clinical effects. Attention in now being directed toward neural grafting in other conditions, such as Huntington's disease. As a precondition for grafting of embryonic striatal cells into diseased striatum in this complex motor and psychiatric disorder, not only is further basic research needed, but also a thorough and wide-ranging assessment protocol is essential.

Essential myoclonus and myoclonic dystonia.

This review explores the history and use of the terms essential myoclonus and myoclonic dystonia. In addition, the review proposes that hereditary essential myoclonus and dominantly inherited myoclonic dystonia, with lightning jerks and dramatic response to alcohol, are the same disease, although proof of this hypothesis must come from ongoing genetic studies.

Pain in multiple system atrophy.

Pain is a recognized feature of idiopathic Parkinson's disease (IPD) but has never been studied in multiple system atrophy (MSA), the commonest cause of atypical parkinsonism. We retrospectively analysed histories of pain in 100 consecutive cases of clinically probable MSA. Details were obtained from the medical records of 100 patients with MSA, comprising 82 with the striatonigral degeneration (SND) type and 18 with the olivopontocerebellar atrophy (OPCA) type of MSA.

Strength in Parkinson's disease: relationship to rate of force generation and clinical status.

Maximum elbow flexor and extensor muscle strength was measured in 9 patients with Parkinson's disease on and off antiparkinsonian medication. In addition, the rate of force generation, the rate of actively returning force to resting levels, and passive release of force "relaxation" were measured in submaximal contractions. The measures of strength and contraction time were correlated with changes in clinical status as measured by the Unified Parkinson's Disease Rating Scale.

The pathophysiology of parkinsonism in multiple system atrophy.

Parkinsonism is the principal motor disorder of multiple system atrophy (MSA). In order to explore the pathophysiology of parkinsonism in MSA, we analysed 182 pathological reports from the literature and 35 from the United Kingdom Parkinson's Disease Society Brain Bank, and have also examined published post-mortem and in vivo neurochemical data. This review indicates that the brains of MSA patients who had parkinsonism in life show degeneration principally in anatomically related regions of the nigrostriatal dopaminergic pathway and of the striatum as well as in the globus pallidus.

Autosomal dominant "Opitz" GBBB syndrome due to a 22q11.2 deletion.

We report on a family with autosomal dominant paternally inherited "Opitz" GBBB syndrome and an additional case with findings which have been reported in that syndrome. In each case the propositus presented with a vascular ring. Since a vascular ring may be a sign of a 22q11.

Psychotic and depressive symptoms in Parkinson's disease. A study of the growth hormone response to apomorphine.

Background: The growth hormone (GH) response to apomorphine, thought to reflect central dopaminergic receptor sensitivity, has been reported as enhanced in acute schizophrenia. We investigated this response in relation to the psychotic episodes associated with Parkinson's disease (PD).

Method: The GH response to apomorphine was measured in three groups of patients with Parkinson's disease: those currently psychotic (n = 9), those with a past history of psychosis (n = 7) and those who had never been psychotic (n = 8).

A clinical and pharmacokinetic case study of an interaction of levodopa and antituberculous therapy in Parkinson's disease.

We studied the relationship between levodopa response and antituberculous treatment in a patient with idiopathic Parkinson's disease whose parkinsonism deteriorated when treatment with rifampicin and isoniazid (Rifinah) for pulmonary tuberculosis was started. A levodopa challenge test with regular recording of motor function was performed during, and again after stopping, antituberculous treatment. Plasma levodopa and levodopa metabolite pharmacokinetic profiles were determined using standard techniques.

Striatal opioid receptor binding in Parkinson's disease, striatonigral degeneration and Steele-Richardson-Olszewski syndrome, A [11C]diprenorphine PET study.

The clinical differentiation of Parkinson's disease from the striatonigral degeneration (SND) type of multiple system atrophy (MSA) and Steele-Richardson-Olszewski syndrome (SRO) may be difficult. This is reflected by a 20-25% misdiagnosis rate in clinicopathological series of cases labelled as 'Parkinson's disease' in life. The caudate and putamen contain a high density of opioidergic neurons and receptors which have a close anatomical and physiological relationship with the dopaminergic system.

Multiple system atrophy.

The past year has seen advances in delineating the clinical features, natural history and imaging characteristics of multiple system atrophy. The initiating pathogenetic mechanisms remain unknown. However, any aetiological or pathophysiological hypothesis must consider not only neuronal loss and gliosis but also the recently described characteristic oligodendrolial cytoplasmic inclusions.

[Multiple system atrophy with Lewy bodies].

The term multiple system atrophy has been used to define a unique sporadic neurodegenerative disease, usually occurring in midlife, pathologically characterized by degeneration of the nigro-striato-pallidal and olivo-ponto-cerebellar systems and autonomic neurons of the spinal cord, and by the presence of characteristic oligodendroglial inclusions. In many cases, this disease can be readily distinguished, both clinically and pathologically, from idiopathic Parkinson's disease. However, often clinical differentiation is difficult, and in a few autopsied cases the presence of Lewy bodies, the characteristic inclusion of idiopathic Parkinson's disease, can lead to diagnostic confusion.

Positron emission tomography studies on the dopaminergic system and striatal opioid binding in the olivopontocerebellar atrophy variant of multiple system atrophy.

Ten patients with sporadic olivopontocerebellar atrophy and autonomic failure were studied with positron emission tomography. Subjects underwent both an [11C]diprenorphine and an [18F]fluorodopa scan. The mean caudate-occipital uptake ratio for [11C]diprenorphine was significantly reduced to 88% and the putamen-occipital uptake ratio to 85% of the control values.

Nerve conduction studies, skeletal muscle EMG, and sphincter EMG in multiple system atrophy.

Although autonomic failure, parkinsonism, and cerebellar and pyramidal signs are well documented in multiple system atrophy, much less is known about the frequency and severity of involvement of the peripheral nervous system. The frequency and nature of peripheral nerve involvement has therefore been determined in 74 patients with multiple system atrophy using nerve conduction studies and skeletal muscle EMG. These findings were compared with those on sphincter EMG.