Postsynaptic nigrostriatal dopamine receptors and their role in movement regulation.

The article presents the hypothesis that nigrostriatal dopamine may regulate movement by modulation of tone and contraction in skeletal muscles through a concentration-dependent influence on the postsynaptic D1 and D2 receptors on the follow manner: nigrostriatal axons innervate both receptor types within the striatal locus somatotopically responsible for motor control in agonist/antagonist muscle pair around a given joint. D1 receptors interact with lower and D2 receptors with higher dopamine concentrations. Synaptic dopamine concentration increases immediately before movement starts. We hypothesize that increasing dopamine concentrations stimulate first the D1 receptors and reduce muscle tone in the antagonist muscle and than stimulate D2 receptors and induce contraction in the agonist muscle. The preceded muscle tone reduction in the antagonist muscle eases the efficient contraction of the agonist. Our hypothesis is applicable for an explanation of physiological movement regulation, different forms of movement pathology and therapeutic drug effects. Further, this hypothesis provides a theoretical basis for experimental investigation of dopaminergic motor control and development of new strategies for treatment of movement disorders.

Gasperini syndrome as clinical manifestation of pontine demyelination.

The Gasperini syndrome is a very rare brainstem disease characterized by the typical combination of ipsilateral lesions of the cranial nerves V-VII and dissociated contralateral hemihypesthesia, whereas both contralateral and ipsilateral hypacusis was described. Since the first description in 1912, only a few cases of this crossed brainstem syndrome were published so far. Pontine infarction and bleedings were the reported causes of the syndrome. Here we report a 44-year-old man with the classical Gasperini syndrome due to pontine demyelination in multiple sclerosis. The clinical findings were correlated with changes on MRI. The present case shows that classical crossed brainstem syndromes are topological terms not invariably associated with brainstem ischemia in particular vascular areas and may contribute to the differential diagnosis of peripheral facial nerve palsy.

Bruns syndrome caused by intraventricular tumor.

The Bruns syndrome is an unusual phenomenon, characterized by attacks of sudden and severe headache, vomiting and vertigo, triggered by abrupt movement of the head. The presumptive cause of the Bruns syndrome is a mobile deformable intraventricular lesion leading to an episodic obstructive hydrocephalus resulted from an intermittent or positional CSF obstruction with elevation of intracranial pressure due to a ball-valve mechanism. Although the old neurological literature recognized tumors as well as neurocysticercosis as causes of the Bruns syndrome, during the last 60 years only intraventricular neurocysticercosis was reported to cause this symptom-complex. Here, we report a 38-year-old woman with relapsing attacks of headache, vertigo, nausea, vomiting, and ataxia provoked by head rotation corresponding to the classical Bruns syndrome. The cranial MRI revealed a tumor in the third ventricle and a further tumor in the fourth ventricle, which could cause a transient obstruction of the CSF pathways. This unusual observation of the Bruns syndrome in a non-parasitary disease of the CNS adds the syndrome to the differential diagnosis of paroxysmal vertigo.

Bruns syndrome caused by intraventricular tumor.

The Bruns syndrome is an unusual phenomenon, characterized by attacks of sudden and severe headache, vomiting and vertigo, triggered by abrupt movement of the head. The presumptive cause of the Bruns syndrome is a mobile deformable intraventricular lesion leading to an episodic obstructive hydrocephalus resulted from an intermittent or positional CSF obstruction with elevation of intracranial pressure due to a ball-valve mechanism. Although the old neurological literature recognized tumors as well as neurocysticercosis as causes of the Bruns syndrome, during the last 60 years only intraventricular neurocysticercosis was reported to cause this symptom-complex. Here, we report a 38-year-old woman with relapsing attacks of headache, vertigo, nausea, vomiting, and ataxia provoked by head rotation corresponding to the classical Bruns syndrome. The cranial MRI revealed a tumor in the third ventricle and a further tumor in the fourth ventricle, which could cause a transient obstruction of the CSF pathways. This unusual observation of the Bruns syndrome in a non-parasitary disease of the CNS adds the syndrome to the differential diagnosis of paroxysmal vertigo.

Call-Fleming postpartum angiopathy in the puerperium: a reversible cerebral vasoconstriction syndrome.

BACKGROUND: The postpartum angiopathy (Call-Fleming syndrome) is a rare, reversible cerebral vasoconstriction syndrome. Unlike in eclampsia, neither proteinuria nor hypertension have been observed in the Call-Fleming syndrome. CASE: A 17-year-old woman developed headache, seizures, confusion, cortical blindness, and denial of visual loss (optic anosognosia, Anton syndrome) on the first postpartum day. Transcranial Doppler demonstrated severely elevated blood velocities. Magnetic resonance angiography showed multifocal segmental narrowing of cerebral arteries. Magnetic resonance imaging revealed occipitotemporal edema. After symptomatic treatment, the clinical deficits disappeared completely within 2 weeks. The follow-up neuroimaging performed after 3 months was unremarkable. CONCLUSION: The case shows that the Call-Fleming syndrome is a reversible condition with excellent prognosis representing an important differential diagnosis of eclampsia, dural sinus thrombosis, and intracranial bleeding in puerperium.

Between Wallenberg syndrome and hemimedullary lesion: Cestan-Chenais and Babinski-Nageotte syndromes in medullary infarctions.

In comparison with the lateral (Wallenberg), medial (Dejerine) and hemimedullary (Reinhold) medulla oblongata syndromes, the Babinski-Nageotte and Cestan-Chenais syndromes are much less familiar cerebrovascular disorders. While the Babinski-Nageotte syndrome is usually confused with the hemimedullary syndrome, reports of the extremely rare Cestan-Chenais syndrome are missing from the modern neurological literature. The pathological and magnetic resonance imaging (MRI) correlations of the Cestan-Chenais syndrome have not been shown so far. We compared clinical and MRI features of two patients exhibiting classical Babinski-Nageotte and Cestan-Chenais syndromes according to their original descriptions with those of three patients with lateral, medial and hemimedullary syndromes. Our study shows that Babinski-Nageotte syndrome includes all symptoms of the Wallenberg syndrome and additionally contralateral hemiparesis due to a spreading of the "Wallenbergian" lateral lesion to the pyramidal tract. The Cestan-Chenais syndrome includes all symptoms of the Babinski-Nageotte syndrome with the exception of the ipsilateral cerebellary hemiataxia because of sparing of the posterior spinocerebellar tract. The Babinski-Nageotte syndrome is neither clinically nor on MRI identical with hemimedullary syndrome. Hypoglossal palsy, an invariable symptom of hemimedullary lesion is not part of the Babinski-Nageotte syndrome. The contralateral hypesthesia is dissociated in the Babinski-Nageotte syndrome. The Babinski-Nageotte and Cestan-Chenais syndromes are intermediolateral medullary syndromes with all (Babinski-Nageotte) or nearly all (Cestan-Chenais) features of the lateral and some features of the medial medulla oblongata syndromes.

Mitochondrial changes in skeletal muscle in amyotrophic lateral sclerosis and other neurogenic atrophies.

Previous findings suggested specific mitochondrial dysfunction in skeletal muscle of patients with amyotrophic lateral sclerosis (ALS). To answer the question of whether the dysfunction is specific, we investigated the histochemical distribution of mitochondrial marker activities, the ratio of mitochondrial (mt) versus nuclear (n) DNA, and the activities of citrate synthase (CS) and respiratory chain enzymes in muscle biopsies of 24 patients with sporadic ALS. The data were compared with those in 23 patients with other neurogenic atrophies (NAs), and 21 healthy controls. Muscle histology revealed similar signs of focally diminished mitochondrial oxidation activity in muscle fibres in both diseased groups. There was only minimal decline of mt/nDNA ratios in ALS and NA patients in comparison with healthy controls. The specific activities of mitochondrial markers CS and succinate dehydrogenase were significantly increased in both ALS and NA patients. The specific activities of respiratory chain enzymes were not significantly different in all three groups. It is concluded that the histochemical, biochemical and molecular mitochondrial changes in muscle are not specific for ALS, but accompany other NAs as well.

Atypical phenotypes in patients with facioscapulohumeral muscular dystrophy 4q35 deletion.

BACKGROUND: Facioscapulohumeral muscular dystrophy (FSHD) is associated with a deletion on chromosome 4q35. Recent studies have shown that this deletion is found in patients with other phenotypes in addition to those with the classic Landouzy-Dejerine FSHD phenotype. OBJECTIVE: To examine patients with atypical phenotypes and an FSHD deletion on chromosome 4q35. DESIGN: Clinical characterization and genotype-phenotype correlation. SETTING: University hospital. PATIENTS: Forty-one symptomatic subjects with deletions on chromosome 4q35. RESULTS: We found 6 patients with atypical FSHD. Three (from a single family with FSHD) had additional symptoms of chronic progressive external ophthalmoplegia (4q35 EcoRI/BlnI fragment size, 20 kilobase [kb]), and 3 patients (1 with sporadic disease and 2 from a single family) had facial-sparing scapulohumeral dystrophy (4q35 EcoRI/BlnI fragment size, 30 and 34 kb, respectively). CONCLUSIONS: The clinical presentations in patients with FSHD-associated short fragments on chromosome 4q35 are not restricted to the classic FSHD form, but constitute a variety of clinical manifestations. There seems to be no clear correlation between the atypical subtype and the DNA fragment size due to the deletion.

Babinski-Nageotte's syndrome and Hemimedullary (Reinhold's) syndrome are clinically and morphologically distinct conditions.

A hemimedullary infarction, in which medial and lateral medullary lesions occur simultaneously, is a rare cerebrovascular disease. It has been suggested that the Babinski-Nageotte's syndrome is the classical brainstem syndrome that corresponds to hemimedullary lesion. In this study we compare clinical symptoms and magnetic resonance imaging (MRI) data of two patients exhibiting classical Babinski-Nageotte's syndrome according to the original description with symptoms and MRI data of a patient with clinically complete hemimedullary lesion. Our study shows that Babinski-Nageotte's syndrome is neither clinically nor on MRI identical with hemimedullary lesion. Hypoglossal palsy, an invariable symptom of hemimedullary syndrome, is not part of the Babinski-Nageotte's syndrome according to the original description. Consistent with the original historical report, Babinski- Nageotte's syndrome is a lateral "Wallenbergian" medullary lesion with a spreading of the lesion to the more basal localised pyramidal tract. The clinical features of the hemimedullary syndrome, described in 1894 by Reinhold, and the MRI appearances in our patient with this syndrome are clearly different from other classical brainstem syndromes and should be called Reinhold's syndrome.

Typical facioscapulohumeral dystrophy phenotype in patients without FSHD 4q35 deletion.

There have been few reports on facioscapulohumeral dystrophy (FSHD) without 4q35 deletion. Most of them had either only mild FSHD phenotype or so called "borderline" EcoRI-fragments (35-38 kb). We analysed the clinical, electrophysiological, histological and genetic features of 46 consecutive patients from 31 families with a typical FSHD phenotype. Five patients from three families were identified with unequivocal clinical features of classical Landouzy-Dejerine FSHD, in which no typical FSHD 4q35 deletion could be seen, i. e. fragment sizes were well above 40 kb. Other possible diseases with similar phenotype were excluded. The FSHD gene itself has not been identified so far. The present study suggests that the FSHD phenotype might be caused by different molecular mechanisms.

Yawning despite trismus in a patient with locked-in syndrome caused by a thrombosed megadolichobasilar artery.

We report a 62-year-old woman with a locked-in syndrome with bilateral masticatory spasms and persistent trismus, who was still able to yawn. A vascular malformation of the basilar artery-megadolichobasilar artery (fusiform aneurysm, vertebrobasilar dolichoectasia) was determined to be the underlying cause of this rare combination of symptoms. A thrombus in the megadolichobasilaris as well as an almost total pontine infarction were demonstrated on CT- and MRI-scans. Thus, trismus may be associated with locked-in syndrome due to megadolichobasilar artery thrombus, although yawning is still possible.

Magnetic resonance angiography in a patient with Crohn's disease associated cerebral vasculitis.

Vasculitits of the central nervous system (CNS) is a known complication of chronic inflammatory bowel diseases. We report the case of a female patient with Crohn's disease, developing vasculitis of the CNS with evidence of pathological vessel depiction on magnetic resonance angiography. To our knowledge this is the first case report regarding MRA documentation of vessel changes typical for angiitis in a patient with Crohn-associated vasculitis of the CNS.

Serial magnet resonance angiography in patients with vasculitis and vasculitis-like angiopathy of the central nervous system.

The purpose of the study was to examine the value of the non-invasive magnet resonance angiography (MRA) in the follow-up of cerebral vasculitis (CV) and vasculitis-like angiopathy. We performed follow-up MRA (TOF 3D), MRI and transcranial doppler ultrasound (TCD) in the patients with isolated angiitis of the CNS (2/6), Crohn-disease-associated CV (1/6), and reversible arterial vasoconstriction (RAV) of the CNS (1 migraine, 1 eclampsia and 1 toxic encephalopathy) (3/6). In all patients with RAV MRA showed a complete remission of the vascular alterations after treatment. In the patients with isolated angiitis of the CNS and Crohn-disease-associated CV, partly regressive and partly progressive changes were demonstrated. The MR-angiographically detectable vascular alterations corresponded to the clinical course of the disease, as well as to TCD in all our patients. Success of therapeutic procedures, the need and the intensity of further drug administration could be estimated. The MRA appears to be a valuable non-invasive method in the follow-up of patients with CV and RAV.

Isolated bilateral blindness as the sole manifestation of transient ischaemic attacks.

PURPOSE: To explain the rare phenomenon of acute transient bilateral blindness without additional ophthalmological or neurological symptoms and signs. METHODS: Six patients with isolated bilateral visual loss lasting 1-15 mins and occurring simultaneously in both eyes were evaluated. Clinical observation, neuroimaging (CT, MRI, MR-angiography), extra- and transcranial Doppler and vascular risk factors assessment were performed. RESULTS: Cortical blindness due to bilateral occipital lobe transient ischaemic attacks (TIAs) was established as the most likely cause of acute transient visual loss in all patients. CONCLUSION: We suggest that in cases of transient bilateral blindness with sudden onset, appearing simultaneously in both visual fields, a bilateral ischaemia of the visual cortex should be suspected even if other neurological symptoms are lacking. Patients should be managed in the same way as patients with vertebrobasilar TIAs.

Rimmed vacuoles in facioscapulohumeral muscular dystrophy: a unique ultrastructural feature.

Rimmed vacuoles (RV) are a characteristic pathological feature in inclusion body myositis, but may also occur in other neuromuscular disorders, such as distal myopathies, oculopharyngeal myopathy, polymyositis, rigid spine syndrome, congenital myopathies, and some limb girdle muscular dystrophies, as well as in various neurogenic diseases. We describe a patient with RV in familial facioscapulohumeral muscular dystrophy (FSHD) associated with an FSHD-typical deletion on chromosome 4q35. Thus, FSHD should be included in the differential diagnosis of neuromuscular disorders with RV.