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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.