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PubMed1993

Psychiatric manifestations of olivo-ponto-cerebellar atrophy and treatment with clozapine.

Patients with multiple system atrophy, a neurodegenerative disease entity, have a high incidence of associated mental disturbances such as a mood disorder with or without psychotic features. Treatment of the psychiatric symptoms, without compromising neurological status, is often complicated and unsuccessful. This article describes a patient with olivo-ponto-cerebellar atrophy and treatment-resistant psychotic depression whose psychiatric symptoms were successfully treated with clozapine without aggravating the neurological disabilities.

Clozapine↗

PubMed2007

[Sleep and movement disorders].

The three different states of being (wakefulness, NREM and REM sleep) are associated with profound neurophysiological and neurochemical changes in the brain. These changes explain the existence of movement disorders appearing only or preferentially during sleep, and the effects of sleep on movement disorders. Sleep-related movement disorders are of clinical relevance for multiple reasons: 1) high frequency (e.g. restless legs syndrome (RLS)); 2) diagnostic relevance (e.g. REM sleep behavior disorder (RBD) as first manifestation of Parkinson disorder); 3) diagnostic uncertainty (e.g. parasomnias vs nocturnal epilepsy); 4) association with injuries (e.g. RBD, sleepwalking), sleep disruption/daytime sleepiness (e.g. RLS), and psycho-social burden (e.g. enuresis); 5) requirement of specific treatments (e.g. nocturnal epilepsy, stridor, RBD). This article gives an overview on clinical manifestations, pathophysiology, work-up and treatment of sleep-related movement disorders (e.g. RLS, bruxism), parasomnias (e.g. sleepwalking, RBD), sleep-related epilepsies, and on sleep-associated manifestations of movement disorders (e.g. Parkinson disease, multiple system atrophy).

Adult↗

PubMed2005

Increased intracranial volume in Parkinson's disease.

BACKGROUND: Parkinson's disease (PD) and multiple system atrophy (MSA) are neurodegenerative diseases that can be difficult to diagnose and distinguish from each other. STUDY AIMS AND METHODS: Patients with PD and MSA and controls were studied with magnetic resonance imaging (MRI) using tissue segmentation and outlining of regions in order to identify regional volume changes that might be useful in the diagnosis of the two diseases. RESULTS: Patients with PD had significantly larger intracranial volumes (ICVs) and significantly smaller putaminal and sustantia nigra volumes than controls. MSA patients had significantly smaller substantia nigra and caudate volumes than controls but normal intracranial volume. In both patient groups there was a further trend towards smaller amygdala volumes. DISCUSSION: Increased ICV in PD patients is a new finding that may be explained by genetic factors or compensatory responses to early CNS damage. Atrophy of the amygdala in MSA patients has not been demonstrated with MR before. It might explain why these patients can have hyposmia. The putaminal atrophy found in the PD group may be a trait of the later stages of PD. Segmentation of the substantia nigra can be a useful aid in the diagnosis of PD and MSA.

Aged↗

PubMed2003

Clinical manifestations of Parkinson's disease and parkinsonism.

The most common disorder in a patient presenting to a movement disorder clinic will be parkinsonism. The challenge is to provide the patient with the most accurate diagnosis and prognosis possible. The assumption at the time of initial presentation of the clinical diagnosis of Parkinson's disease is often wrong (20-25%). Waiting to see the pattern of progression, and response to medication provides invaluable additional information. This manuscript summarizes the clinical manifestations of Parkinson's disease and the main akinetic-rigid syndromes (progressive supranuclear palsy, multiple system atrophy, cortical-basal ganglionic degeneration, and dementia with Lewy bodies) that make up the differential diagnosis.

Basal Ganglia Diseases↗

PubMed1999

Structural basis for triplet repeat disorders: a computational analysis.

MOTIVATION: Over a dozen major degenerative disorders, including myotonic distrophy, Huntington's disease and fragile X syndrome, result from unstable expansions of particular trinucleotides. Remarkably, only some of all the possible triplets, namely CAG/CTG, CGG/CCG and GAA/TTC, have been associated with the known pathological expansions. This raises some basic questions at the DNA level. Why do particular triplets seem to be singled out? What is the mechanism for their expansion and how does it depend on the triplet itself? Could other triplets or longer repeats be involved in other diseases? RESULTS: Using several different computational models of DNA structure, we show that the triplets involved in the pathological repeats generally fall into extreme classes. Thus, CAG/CTG repeats are particularly flexible, whereas GCC, CGG and GAA repeats appear to display both flexible and rigid (but curved) characteristics depending on the method of analysis. The fact that (1) trinucleotide repeats often become increasingly unstable when they exceed a length of approximately 50 repeats, and (2) repeated 12-mers display a similar increase in instability above 13 repeats, together suggest that approximately 150 bp is a general threshold length for repeat instability. Since this is about the length of DNA wrapped up in a single nucleosome core particle, we speculate that chromatin structure may play an important role in the expansion mechanism. We furthermore suggest that expansion of a dodecamer repeat, which we predict to have very high flexibility, may play a role in the pathogenesis of the neurodegenerative disorder multiple system atrophy (MSA). CONTACT: pfbaldi@ics.uci.edu, yves@netid.com, brunak@cbs.dtu.dk, gorm@cbs.dtu.dk.

Anticipation, Genetic↗

PubMedDate not supplied

[123I-metaiodobenzylguanidine myocardial scintigraphy in the differential diagnosis of patients with parkinsonian syndromes -- case reports].

The aim of this study is to present a clinical role for 123I-metaiodobenzylguanidine (MIBG) myocardial scintigraphy in the differential diagnosis in patients with parkinsonian syndromes. We present a 51-year-old woman with parkinsonian syndrome and syncope occurrence. She reproduced spontaneous syncope in the tilt test. We present also a 60-year-old man with parkinsonian syndrome and syncope and presyncope occurrence. He also reproduced spontaneous syncope in the tilt test. Cardiac 123I-MIBG scintigraphy was performed in both patients. In the former patient, the H/M ratio of MIBG uptake was within normal ranges, in the latter, it was abnormally impaired. The results of the 123I-MIBG cardiac scintigraphy confirm results of the other studies. In the patient with Parkinson's disease the H/M ratio of MIBG uptake was abnormally impaired. The patient with the multiple system atrophy was within normal ranges.

3-Iodobenzylguanidine↗

PubMed2005

Increased T2 signal in the middle cerebellar peduncles on MRI is not specific for fragile X premutation syndrome.

The fragile X premutation tremor/ataxia syndrome (FXTAS) is a recently described adult-onset neurodegenerative disorder, in which ataxia, tremor, cognitive decline, parkinsonism, neuropathy and autonomic dysfunction occur in various combinations. It is reported to display a characteristic MRI appearance, with increased T2 signal in the middle cerebellar peduncles and around the dentate nuclei. Diagnostic criteria have been proposed on the basis of these clinical and radiological features, presupposing that a CGG expansion has been demonstrated. We present three cases in which MRI and clinical findings suggested the possibility of FXTAS, although only one was confirmed on genetic testing. The phenotypic overlap with multiple system atrophy of cerebellar type (MSA-C) and the importance of genetic confirmation are emphasised.

Adult↗

PubMed2002

[Man aged 49 years suffering from progressive clinical picture with palatal tremor, segmental myoclonus, ataxia, parkinsonism, amyotrophy, pyramidal signs, supranuclear ophthalmoplegia and cognitive decline].

In this clinicopathological conference we discuss the case of a patient aged 49 years, who developed progressive clinical picture characterized by palatal tremor (PT), segmental myoclonus, cerebellar ataxia, parkinsonism, amyotrophy, pyramidal signs, supranuclear ophthalmoplegia, parkinsonism and cognitive decline. He died 10 years after onset. There was no family history of ataxia. Initially a diagnosis of cerebral Whipple's disease was given, but prolonged treatment with ampicilin and cloramfenicol did not modify the clinical course. Magnetic resonance imaging study showed cerebellar and brainstem atrophy. Electrophysiological examination revealed neurogenic electromyographic pattern and abnormal somatosensory and brainstem evoked potentials. Starting from symptomatic PT, as the guide sign, a presumptive pathological diagnosis of sporadic olivopontocerebellar atrophy (OPCA) was established, probably of multiple system atrophy (MSA) type. Neuropathological study demonstrated OPCA with preferential involvement of cerebellum but without glial inclusions. This case illustrates the great clinicopathological complexity of OPCA and that not all forms of sporadic OPCA may be included within MSA.

Ataxia↗

PubMed2006

The SCA17 phenotype can include features of MSA-C, PSP and cognitive impairment.

Spinocerebellar ataxia (SCA) 17 is a dominant neurodegenerative disorder characterized by ataxia, cognitive decline, dystonia, and parkinsonism. The disease is caused by unstable cytosine-adenine-guanine (CAG) trinucleotide expansion mutation coding for polyglutamine tracts in the TATA box-binding protein (TBP), a general transcription initiation factor. Herein, we report a SCA17 case with a phenotype not previously reported, which consisted of progressive ataxia, autonomic dysfunction, parkinsonism, supranuclear palsy and cognitive impairment. Cerebrospinal fluid study and 18F-dopa PET scanning demonstrated dopamine deficiency and nigrostrital degeneration. This case expands the current phenotype associated with SCA17. SCA17 should be considered in the differential diagnosis of cases resembling multiple system atrophy, especially those with atypical features.

Brain↗

PubMed2001

Aberrant pyramidal tract in the medial lemniscus of the human brainstem: normal distribution and pathological changes.

We examined the consistency of the so-called aberrant pyramidal tract (APT) in 150 consecutive autopsied human brains using the modified Bielschowsky stain for axons. We were able to identify the APT in all brains except for one with holoprosencephaly. The APT left the pyramidal tract within the crus cerebri and passed in the medial lemniscus of the pons through the upper medulla oblongata. In 13 of the 63 brains with cerebrovascular diseases, wallerian degeneration was found in the APT on the ipsilateral side of the cerebral lesions. Further, the APT showed depletion of small-sized fibers in 2 of the 5 brains with multiple-system atrophy. These findings confirmed that the APT is a normal descending fiber tract and a part of the pyramidal tract.

Adult↗

PubMed1999

Proton magnetic resonance spectroscopy (1H MRS) in patients with sporadic cerebellar degeneration.

The authors studied 23 patients with cerebellar degeneration including multiple systemic atrophy (MSA) and cerebellar cortical atrophy (CCA) by proton magnetic resonance spectroscopy (1H-MRS). 1H-MRS allowed noninvasive measurement of the signal intensities derived from N-acetylaspartate (NAA), creatine + phosphocreatine (CRE), and choline-containing compounds (CHO). There was significant reduction of the NAA/CRE level in the frontal cortex, putamen, cerebellar hemisphere and cerebellar vermis of patients with MSA, and in the frontal cortex, cerebellar hemisphere and cerebellar vermis of patients with CCA as compared with those of normal controls. There was significant reduction of the NAA/CRE level also in the putamen of patients with MSA as compared with that of patients with CCA. These results indicated the presence of a degenerative process and/or functional impairment in the frontal cortex and putamen of patients with MSA and in the frontal cortex of patients with CCA, in addition to a degenerative process in the cerebellum. There was a significant correlation between the NAA/CRE level and the severity of clinical signs. 1H-MRS is valuable in providing information regarding the pathophysiology and the progress of cerebellar degenerative diseases.

Adult↗

PubMed2006

Neurological diseases that cause detrusor hyperactivity with impaired contractile function.

AIMS: Detrusor hyperactivity with impaired contractile function (DHIC) was originally described in elderly women. It has not previously been well known whether neurological diseases cause DHIC. We investigated which neurological diseases commonly cause DHIC in our laboratory. MATERIALS AND METHODS: We searched for DHIC in our laboratory's computerized database of 1,514 case records, which included a lower urinary tract (LUT) symptom questionnaire and urodynamic study results. DHIC was defined as the presence of both (1) detrusor overactivity during the storage phase, and (2) underactive detrusor contraction during the evacuation phase. RESULTS: Two hundred and seventeen patients met the criteria for DHIC: 122 men and 95 women; mean age, 63 years. The neurological diseases that caused DHIC included Parkinsonian syndrome (18%), multiple system atrophy (18%), progressive supranuclear palsy/corticobasal degeneration (14%), multiple cerebral infarction (MCI) (12%), multiple sclerosis/acute disseminated encephalomyelitis (18%), spinal cord lesions (15%), and cervical spondylotic myelopathy (CS) (10%). CONCLUSIONS: The present study revealed that a wide spectrum of neurological disorders could cause DHIC.

Adult↗

PubMed2003

[Diagnostic criteria of parkinsonian syndromes].

Parkinson's disease constitutes 75p. 100 of all causes of parkinsonism. The disease is defined clinically by the UK Parkinson's Disease Brain Bank (UKPDSBB) which exclude secondary causes of parkinsonism and atypical primary parkinsonian syndromes. Any atypical sign, also commonly known as "red flags", should make the clinician aware of an alternative diagnosis: multiple system atrophy, progressive supranuclear palsy, corticobasal degeneration and parkinsonism associated with dementia such as dementia with diffuse Lewy body disease. Despite progress in designing validated clinical diagnosis criteria, such diseases remain difficult to diagnose in their early course.

Brain↗

PubMed2005

New and reliable MRI diagnosis for progressive supranuclear palsy.

OBJECTIVE: To evaluate the area of the midbrain and pons on mid-sagittal MRI in patients with progressive supranuclear palsy (PSP), Parkinson disease (PD), and multiple-system atrophy of the Parkinson type (MSA-P), compare these appearances and values with those of normal control subjects, and establish diagnostic MRI criteria for the diagnosis of PSP. METHODS: The authors prospectively studied MRI of 21 patients with PSP, 23 patients with PD, 25 patients with MSA-P, and 31 age-matched normal control subjects. The areas of the midbrain tegmentum and the pons were measured on mid-sagittal MRI using the display tools of a workstation. The ratio of the area of the midbrain to the area of the pons was also evaluated in all subjects. RESULTS: The average midbrain area of the patients with PSP (56.0 mm2) was significantly smaller than that of the patients with PD (103.0 mm2) and MSA-P (97.2 mm2) and that of the age-matched control group (117.7 mm2). The values of the area of the midbrain showed no overlap between patients with PSP and patients with PD or normal control subjects. However, patients with MSA-P showed some overlap of the values of individual areas with values from patients with PSP. The ratio of the area of the midbrain to the area of pons in the patients with PSP (0.124) was significantly smaller than that in those with PD (0.208) and MSA-P (0.266) and in normal control subjects (0.237). Use of the ratio allowed differentiation between the PSP group and the MSA-P group. CONCLUSION: The area of the midbrain on mid-sagittal MRI can differentiate PSP from PD, MSA-P, and normal aging.

Aged↗

PubMed2005

A differential diagnosis of Parkinsonism.

Parkinsonism is a common, age-related syndrome, characterized by resting tremor, bradykinesias, rigidity, and postural reflex impairment. Though Parkinsonism is not very difficult to recognize, all Parkinsonism is not created equal and it is important to distinguish among the most common identifiable syndromes. This review discusses the key clinical features of these various syndromes, including Parkinson's disease, progressive supranuclear palsy, multiple system atrophy, corticobasal ganglionic degeneration, Lewy body disease, vascular Parkinsonism, and Parkinsonism with no clear etiology. Symptomatology and diagnostic testing for each syndrome are discussed and 4 typical cases are analyzed to offer clinicians guidance in making a differential diagnosis for Parkinsonism.

Brain↗

PubMed2006

Olivopontocerebellar atrophy: toward a better nosological definition.

Olivopontocerebellar atrophy (OPCA) is a pathological label implying not only olivopontocerebellar changes, but also cases with more widespread lesions involving the CNS. This polytopic pathological background accounts for clinical complexity, essentially defined as cerebellar-plus syndrome. The term "OPCA" is applicable to an increasing number of neurodegenerative syndromes, including autosomal dominant ataxia, complicated spastic paraplegia, multiple-system atrophy (MSA), and many cases of idiopathic late-onset cerebellar ataxia (ILOCA), some of whom also turn out to have MSA. OPCA may also be part of the pathological hallmark of other disorders, such as prion disorders, mitochondrial encephalomyopathies, and hereditary metabolic diseases. Sporadic OPCA and ILOCA with cerebellar-plus presentation and neuroimaging evidence of brainstem and cerebellar atrophy may represent interchangeable eponyms. Just a quarter of such cases evolve to MSA within 5 years of the onset of symptoms. Therefore, the assumption that MSA and sporadic OPCA necessarily are one and the same disease is no longer tenable. Our review suggests that the label "OPCA" is useful to designate a clinicopathological syndrome that has a variety of etiologies carrying a poor prognosis, particularly if associated with autonomic failure as occurs in MSA.

Brain Stem↗

PubMed2000

[Essential points to differentiate various diseases causing parkinsonism].

This review article deals with the cardinal features to differentiate various conditions which present with parkinsonism, other than Parkinson's disease, Lewy body disease, progressive supranuclear palsy and corticobasal degeneration. Special attention is paid to the distinctive clinical features, laboratory data and neuroimaging findings of frequent diseases as well as important ones including multiple system atrophies(MSA), drug-induced parkinsonism, vascular pseudo-parkinsonism and manganese intoxication due to parenteral nutrition. MRI is useful to diagnose MSA, vascular pseudo-parkinsonism and manganese intoxication. Benzamide derivatives including sulpiride, tiapride, metoclopramide and cisapride are the main causes of drug-induced parkinsonism in recent years in Japan.

Diagnosis, Differential↗

PubMed2006

Regional brain volumes distinguish PSP, MSA-P, and PD: MRI-based clinico-radiological correlations.

Progressive supranuclear palsy (PSP) and multiple system atrophy (MSA) are neurodegenerative disorders, each with a prevalence of around 5 per 100,000. Regional brain atrophy patterns differ in the two disorders, however, and magnetic resonance imaging is sometimes helpful in distinguishing them in the later stages. We measured whole brain and regional volumes, including cerebellum, pons, midbrain, superior cerebellar peduncle (SCP), and ventricular volumes as well as frontal and posterior-inferior cerebral regions in 18 subjects with PSP, 9 with MSA-P (parkinsonian phenotype), 9 with Parkinson's disease (PD), and 18 healthy controls. Associations between these volumes, cognitive profiles, and clinical measures of disease severity and motor disability were assessed. Mean midbrain volume was 30% smaller in PSP than in PD or controls (P < 0.001) and 15% smaller than in MSA-P (P = 0.009). The mean SCP volume in PSP was 30% smaller than in MSA-P, PD, or controls (P < 0.001). Mean cerebellar volumes in MSA-P were 20% smaller than in controls and PD and 18% smaller than in PSP (P = 0.01). Mean pontine volume in MSA-P was 30% smaller than in PD or controls (P < 0.001) and 25% smaller than in PSP (P = 0.01). Motor disability was most strongly associated with midbrain volume, and more severe executive dysfunction was associated with reduced frontal volume. These distinct patterns of cortical and subcortical atrophy, when considered together rather than independently, better differentiate PSP and MSA-P from each other and also from healthy controls.

Aged↗