WITHDRAWN: MS related employment and disease modifying treatment in the German working population: 1994-2009.

Ahead of Print article withdrawn by publisher.

Puusepp's sign--clinical significance of a forgotten pyramidal sign.

The pyramidal signs in the lower extremity can be divided into three groups: (1) Babinski's group characterised by dorsoflexion of the great toe, (2) pyramidal signs marked by plantar flexion of the toes (e.g. Rossolimo's sign), and (3) synkinetic movements such as Strümpell's phenomenon. Puusepp's sign described by the Estonian neurologist and neurosurgeon Ludvig Puusepp belongs to none of these three groups. Its eliciting does not differ from that of Babinski's sign. The response, however, is different and consists of a tonic slow abduction of the little toe. We showed its relevance on the basis of clinical examination of six patients: four females aged 29, 50, 43 and 57 years and two males aged 42 and 49 years. The diagnoses were as follows: a new relapse of multiple sclerosis, a secondary progressive multiple sclerosis, a left middle cerebral artery stroke, a lumbago resulting in L3-L4 fusion surgery, an amyotrophic lateral sclerosis and a left intracerebral haemorrhage respectively. Puusepp's sign was the only elicitable pyramidal sign in all the patients but two. The 50-year-old female patient revealed on neurological examination Babinski's sign on the left side and Puusepp's sign on the right side. The testing of pyramidal signs in the 57-year-old woman displayed a bilateral Strümpell's sign and a left Puusepp's sign. These six cases showed that although rarely recognized in the clinical practice Puusepp's sign contributed to establishing the diagnosis of a central motor neuron involvement in the case of an absent Babinski's sign. Thus, its testing does not differ from that of Babinski's sign which requires only a little attention from the examiner, but provides an important piece of clinical information.

[Acute persistent bilateral loss of vision]. / Akuter persistierender bilateraler Visusverlust.

Bilateral severe vision loss is a dramatic illness that requires extended diagnostics and immediate therapy. We report on a 37-year-old man who was admitted with lower back pain, headache, and fever. Within 3 days he developed meningism, pleocytosis in the cerebral spinal fluid, and bilateral vision loss, with the vision loss occurring within a few hours. Magnetic resonance imaging showed swelling of the optic nerves. No signs of infectious or immunologic disease could be detected. Despite antibiotic and antiviral treatment followed by immunosuppression with high-dose methylprednisolone, the patient's symptomatology did not decline. The disease course resulted in bilateral atrophy of the papillae caused by bilateral fulminant optic neuritis.

Dilated cardiomyopathy may be an early sign of the C826A Fukutin-related protein mutation.

Limb-girdle muscular dystrophy LGMD2I is caused by mutations in the fukutin-related protein (FKRP) gene. Clinically, LGMD2I exhibits a great phenotypic variability ranging from severe, rapidly progressive weakness and wasting of the limb-girdle muscles to mild disorders. Here, we present three siblings without clinical signs of muscle dystrophy, but with dilated cardiomyopathy. Elevated serum creatine kinase level and partial fatty degeneration of muscles on MRI indicated subclinical involvement of skeletal muscles. The patients were homozygous for the common C826A mutation in the FKRP gene. Although cardiac involvement in patients with clinically typical LGMD2I was previously described, no patient with dilated cardiomyopathy as the only clinical manifestation of the FKRP mutation was reported so far.

[Classical crossed pontine syndromes]. / Klassische alternierende Syndrome der Brücke. Eine historisch-kritische und topodiagnostische Analyse.

Definitions of classical crossed brainstem syndromes in the modern neurological literature are often inaccurate and inconsistent. As a result, different clinical syndromes are designated with the same eponym, other crossed syndromes are nearly completely forgotten. In this study, the original historical publications on the classical alternating pontine syndromes of Foville, Millard-Gubler, Raymond, Raymond-Cestan, Brissaud-Sicard, Gasperini, Grenet and Gelle were reviewed and critically analysed. Their anatomic basis and etiology, and the main publications about each syndrome were discussed. We conclude that the syndromes of Foville, Millard-Gubler, Raymond, Raymond-Cestan and Brissaud-Sicard are interpreted in their essential parts concurring to their historical descriptions. Crossed syndromes of Foville and Millard-Gubler are occasionally mixed up with each other. The syndromes in the last decades described as crossed syndromes of Gasperini and Grenet were, however, never described by Gasperini and Grenet. The existence of the Gelle's as "paralysie alterné de l'acoustique" postulated syndrome seems to be very questionable.

[Unilateral amaurosis as the only focal symptom caused by dissection of the common carotid artery]. / Unilaterale Amaurose als einziges fokales Zeichen einer Carotis-communis-Dissektion.

BACKGROUND: Central retinal artery occlusion with persistent amaurosis as the only focal symptom caused by dissection of the internal carotid artery has occasionally been reported. Central retinal artery occlusion due to a common carotid artery dissection has been diagnosed only very rarely. CASE REPORT: We describe a patient presenting with cervical pain, headache and unilateral amaurosis due to a thrombosis of the central retinal artery caused by a common carotid artery dissection, as demonstrated on MR imaging. No other neurological deficits could be detected. The patient underwent an anticoagulative treatment without improvement of his vision, but also without the appearance of further neurological symptoms. CONCLUSION: In monocular visual loss combined with cervical pain or headache, carotid artery dissection should be considered. Early treatment might be of crucial importance for the prevention of a devastating hemispheric stroke.

External ophthalmoplegia due to ocular myositis in a patient with ophthalmic herpes zoster.

External ocular muscle palsies in patients with ophthalmic zoster are traditionally interpreted as diseases of III, IV or VI cranial nerves. Orbital myositis associated with zoster ophthalmicus has been diagnosed only rarely. We describe a patient with ophthalmic zoster and external ophthalmoplegia due to ocular myositis demonstrated by MR imaging. Treatment with acyclovir and cortisone resulted in a rapid improvement of the ophthalmoplegia. In ophthalmic herpes zoster associated with external ocular muscle palsies, ocular myositis is an important differential diagnosis to inflammatory involvement of the cranial nerves III, IV, and VI.

[The clinical spectrum of limb-girdle muscular dystrophies type 2I in cases of a mutation in the "fukutin-related- protein"-gene]. / Klinisches Spektrum der Gliedergürtelmuskeldystrophie Typ 2I bei Mutation im "Fukutin-Related-Protein"-Gen.

LGMD2I, linked to chromosome 19q13.3, is caused by mutations in the fukutin related protein (FKRP) gene. This myopathy has a variable clinical course with weakness and wasting of the shoulder girdle muscles and proximal extremities, calf hypertrophy, and elevated serum CK. We describe five patients from four families harboring the typical C826A mutation in the FKRP gene. Three patients showed the typical clinical features of LGMD2I. One patient had prominent exercise-induced myalgia in addition to a limb-girdle syndrome. Another patient had myalgia, cramps, elevated serum CK and dilatative cardiomyopathy without muscle weakness and wasting. Thus, the phenotype of the C826A mutation in the FKRP gene is apparently not restricted to a clinical limb girdle syndrome.

[The Schmidt and Vernet classical syndrome. Alternating brain stem syndromes that do not exist?]. / Die klassischen Syndrome von Schmidt und Vernet. Alternierende Hirnstammsyndrome, die nicht existieren?

In contrast to the majority of classic brainstem syndromes, the interpretation of Schmidt's syndrome (ipsilateral palsy of the IX, X, XI, and XII cranial nerves with contralateral hemiparesis) and Vernet's syndrome (ipsilateral palsy of the IX, X, and XI nerves with contralateral hemiparesis) is controversial. They are sometimes addressed as crossed brainstem syndromes but also as syndromes due to multiple cranial nerve lesions without contralateral hemiparesis. In this study, the historic descriptions and recent publications about Schmidt's and Vernet's syndromes were reviewed and critically analysed. We conclude that historic descriptions and later publications describe exclusively patients with extracerebral lesions of multiple cranial nerves. "Central" syndromes of Schmidt and Vernet caused by brainstem lesion appear not to exist. An extremely extensive lesion explaining these hypothetical unilateral brainstem syndromes is theoretically possible but, however, was apparently never observed in any of the known unilateral brainstem diseases.

[Avellis' syndrome in brainstem infarctions]. / Avellis-Syndrom bei Hirnstammischämien.

In 1891 Georg Avellis described a so-called "laryngeal hemiplegia" that can be caused by peripheral lesions of the vagal and glossopharyngeal nerves and rarely by infarctions of the medulla oblongata, thus representing a classical brainstem syndrome. In this study we describe two patients with an Avellis' syndrome caused by brainstem ischemia. Contemporary publications about Avellis' syndrome in brainstem lesions seem to be very inhomogenous. They report various diseases with unilateral laryngeal palsy due to nucleus ambiguus lesions with diverse additional neurological symptoms. We conclude that according to Avellis' original description only the combination of ipsilateral palatolaryngeal paresis and contralateral hemiparesis and/or hemihypesthesia should to be interpreted as Avellis' syndrome.

[Classical crossed syndromes of the medulla oblongata. A historical and topodiagnostic discussion]. / Klassische alternierende Medulla-oblongata-Syndrome - Eine historisch-kritische und topodiagnostische Analyse -

Historical publications of the classical alternating medulla oblongata syndromes of Wallenberg, Babinski-Nageotte, Cestan-Chenais, Hughlings Jackson, Avellis, Schmidt, Dejerine, Spiller and Tapia were reviewed and critically analysed. We compare these descriptions with descriptions of the brainstem syndromes in well-known modern German, English and Russian neurological textbooks. The anatomic basis and etiology of the alternating medullar syndromes, and the main publications relating to these syndromes were discussed. Causes of the inconsistencies of the modern and historical descriptions of these syndromes might be an ignorance of the historical references. Progress and development of the clinical neurology and neuroanatomy in the late twentieth century, however, has also lead to correction and perfection of some historical descriptions in the modern neurological literature.

[Facioscapulohumeral muscular dystrophy. The spectrum of clinical manifestations and molecular genetic changes]. / Fazioskapulohumerale Muskeldystrophie. Spektrum der klinischen Manifestationen und molekulargenetischen Veränderungen.

Although the gene for facioscapulohumeral muscular dystrophy (FSHD) has not been identified so far, 4q35 deletion represents a diagnostic marker of the disease. In the present study, 46 consecutive symptomatic patients with 4q35 FSHD deletions or typical FSHD clinical features were evaluated. The patients were divided into three groups: 33 patients (72%) with typical FSHD phenotype and 4q35 FSHD deletion, eight (17%) with atypical (non-Landouzy-Dejerine) FSHD phenotype but with 4q35 FSHD deletion, and five patients (11%) with the typical FSHD phenotype but without FSHD 4q35 deletion. Apparently, the 4q35 deletion is associated not only with Landouzy-Dejerine FSHD but also with a variety of "atypical" FSHD forms. On the other hand, the Landouzy-Dejerine FSHD phenotype is possibly a polyetiological syndrome caused in some patients by other genetic effects than 4q35 deletion.

Brainstem infarctions with normal MRI.

Most studies on brainstem infarctions included only patients with lesions documented by CT or MRI. The aim of this study was to analyse the clinical symptomatology in patients with the classical signs of brainstem infarcts and normal MRI results. Frequencies of MR-positive and negative infarctions should be analysed according to their location. In a series of 30 consecutive patients with acute clinical symptoms of ischemic brainstem lesions and persistence of the symptomatology for more than 10 days, 8 patients had normal MRI. In these patients the location of the lesion was established by clinical and electrophysiological criteria. The lesions in the 8 patients with normal MRI were situated in medulla oblongata (n=3), in pons (n = 2), and in midbrain (n = 3). In each of these patients the clinical symptoms corresponded to one of the classical alternating syndromes, which are pathognomic for brainstem infarctions (1 Wallenberg, 1 Avellis, 1 Jackson, 2 Millard-Gubler, and 3 Weber). The clinical course of the infarctions with normal MRI was favourable, the symptoms disappeared within few weeks. Our study proved that the clinical diagnosis of brainstem infarction, particularly in lesions of midbrain and caudal tegmentum pontis, can not be excluded by normal MRI.

[Correlation of clinical and magnetic resonance imaging findings in patients with brainstem infarction]. / Korrelation klinischer und kernspintomographischer Befunde bei Patienten mit Hirnstamminfarkten.

The aim of this study was the comparison of clinical and neurological findings in 30 patients presenting with ischemic brainstem lesions. These were localized in the midbrain in 4 cases, in the medulla in 12 cases and in the pons in 11 cases, while the remaining three patients demonstrated combined lesions. Symptoms were lesions of the pyramidal tract in 77% of cases, vertigo in 57% of cases, speech disturbances in 40% of cases and gait ataxia in 37% of cases. Cranial nerve lesions were evident in 87% of patients, while 33% of patients demonstrated a Horner syndrome. Brainstem lesions were diagnosed in 22 (73%) of patients on magnetic resonance imaging, while all 30 patients had clinical signs suggestive of brainstem lesions. We conclude that neuroradiological studies can provide helpful information regarding patients with brainstem lesions, but by no means replace exact neurological examination.