Kryoglobuline sind eine seltene Ursache entzündlicher Neuropathien. Wir beschreiben einen schwer verlaufenden Fall einer Polyneuropathie im Rahmen einer Kryoglobulinämie.

OBJECTIVE:The ability to recognize facial emotion expressions has been reported to be impaired in Parkinson's disease (PD), yet previous studies showed inconsistent findings. The aim of this study was to further investigate facial emotion recognition (FER) in PD patients and its association with demographic and clinical parameters (including motor and nonmotor symptoms). METHOD:Thirty-four nondemented PD patients and 24 age- and sex-matched healthy controls (HC) underwent clinical neurological and neuropsychological assessment, standardized olfactory testing with Sniffin' Sticks, and the Ekman 60 Faces Emotion Recognition Test. RESULTS:PD patients had a significantly lower score on the total FER task than HC (p = .006), even after controlling for the potential confounding factors depression and apathy. The PD group had a specific impairment in the recognition of surprise (p = .007). The recognition of anger approached statistical significance (p = .07). Increasing chronological age and age at disease onset were associated with worse performance on the FER task in PD patients. Olfactory function along with PD diagnosis predicted worse FER performance within all study participants. CONCLUSION:Facial emotion recognition and especially the recognition of surprise are significantly impaired in PD patients compared with age- and sex-matched HC. The association of FER with age and olfactory function is endorsed by common structures that undergo neurodegeneration in PD. The relevance of FER in social interaction stresses the clinical relevance and the need for further investigation in this field. Future studies should also determine whether impaired FER is already present in premotor stages of PD.

Es ist erklärtes gesundheitspolitisches Ziel, die Zahl der klinischen Obduktionen zu steigern, um der notwendigen Qualitätssicherung im Gesundheitswesen gerecht zu werden.

Horner’s syndrome may result from a variety of central or peripheral lesions of the sympatho-excitatory pathway. Associated symptoms like focal anhidrosis or gustatory sweating are helpful to localize the lesion and to direct further neuroimaging procedures. The starch-iodine test according to Minor can reveal the extent of anhidrosis and therefore help to localize lesions of the sympathetic nervous system. Pharmacological pupillary testing, sympathetic skin response and autonomic testing may result in further information about the place of the lesion. Case report: We present a 44-year old male patient with clinical manifestation of right sided Horner’s syndrome after ipsilateral cervical disc herniation surgery at C6/C7. Horner‘s syndrome was accompanied by reduced sweating when exposed to heat and exercise, but enhanced gustatory sweating after consumption of spicy food, both only at the right side of the face. The patient also complained about severe neuropathic pain on his skin at the right side of his face and neck, exacerbating at times of changing weather and after performing exercise with the right arm. Neurological examination did not show any other pathological findings, especially no tonic pupils, no hyporeflexia, and no signs of a brainstem or other cerebral infarction. Laboratory diagnostics and lumbar puncture showed normal parameters. Sympathetic skin response of both hands and cardiac autonomic testing were also normal. Pharmacological pupillary testing with local cocaine showed significantly less pupil dilatation at the right side and therefore confirmed Horner’s syndrome. A sweating test was conducted to further localize the lesion of the sympatho-excitatory pathway. The starch-iodine test according to Minor was first performed after heat exposure and then again after eating spicy food (chili). It showed heat hypohidrosis on the right sight of the face, but neither on the right arm nor thorax. After intake of chili, gustatory sweating was only detected on the right facial hemisphere. MRI imaging of the brain and the cervical spine showed no abnormalities. By treatment with pregabalin, oxycodone/naloxone, and amitriptyline, we were able to reduce the neuropathic pain. A stellate ganglion block remains an option in case of refractory pain. Conclusion: By performing a starch-iodine test, we were able to localize the lesion of the sympathetic pathway at the area of the superior cervical ganglion of the sympathetic trunc. A damage at the stellate ganglion would have caused quadrant anhidrosis, while a central lesion e.g. at the hypothalamus would have caused hemianhidrosis. A more distal lesion at the carotid plexus results in only partial facial hypohidrosis or no hypohidrosis at all. We suspect a damage of the second order preganglionic sympathetic neuron, because gustatory sweating is most frequently described in preganglionic lesions. Despite the normal MRI scan, an association with the cervical surgery is probable. This case underlines the usefulness of “old” examination procedures like the starch-iodine sweat test in the topodiagnosis of focal dysautonomias like Horner‘s syndrome.

Facial onset sensory motor neuronopathy (FOSMN) syndrome is a rare sporadic entity which has only recently been described (Vucic et al., 2006). It is presumed to be neurodegenerative; its etiology however, remains unknown. Despite initial facial sensory symptoms, FOSMN syndrome has been linked to amyotrophic lateral sclerosis (ALS), a link which has recently been underpinned by a description of a D90A superoxide dismutase-1 (SOD-1) mutation in a case of FOSMN syndrome (Dalla Bella et al., 2014). We describe another case of a presumed FOSMN syndrome in a 70-year-old man. At the age of 56, the patient experienced facial and bulbar motor symptoms, though without prominent trigeminal sensory symptoms. He developed slow progressive mild dysarthria, dysphagia, and hoarseness, showing pronounced facial weakness, fasciculation, and myokymia, wasted furrowed tongue, but no upper or lower limb weakness or fasciculation or no upper motor neuron signs. Electrodiagnostic findings revealed an abnormal blink reflex, masseter reflex, masseteric silent period, and trigeminal SEPs. Nerve conduction studies showed a sensory-motor polyneuropathy predominantly demyelinating. A chronic neuropathy with predominant remyelination and regeneration, though without cellular infiltration or amyloid deposition, could be observed in a sural nerve biopsy. A pathologic trinucleotide CAG repeat expansion in the androgen receptor gene (spinal and bulbar muscular atrophy, Kennedy’s disease) and a dynactin mutation were excluded by means of Sanger sequencing. Additionally, next-generation sequencing targeted to 242 neurodegeneration associated genes revealed a homozygous variant in the CYP2U1 gene (c.992A>G, p.N331S) and a heterozygous variant in the SYNE1 gene (c.6268G>C, p.E2090Q). These variants have yet to be described in genetic databases. No mutations could be detected among 26 screened ALS-related genes. Mutations in CYP2U1 can cause autosomal recessive inherited spastic paraplegia type 56 (SPG 56). Mutations in SYNE1 can cause either autosomal dominant Emery-Dreifuss muscular dystrophy-4 (EDMD4) or autosomal recessive spinocerebellar ataxia type 8 (SCAR8). The relationship between the CYP2U1 and SYNE1 variants and FOSMN syndrome established here requires further investigation. The genetic data presented showed no link between FOSMN syndrome and ALS, instead pointing towards evidence of an oligogenic basis for FOSMN syndrome.

Idiopathic Parkinson's disease (IPD) is characterized by the clinical motor symptoms of hypokinesia, rigidity, and tremor. Apart from these motor symptoms, cognitive deficits often occur in IPD. The positive effect of cholinesterase inhibitors on cognitive deficits in IPD and findings of earlier molecular imaging studies suggest that the cholinergic system plays an important role in the origin of cognitive decline in IPD.Twenty-five non-demented patients with IPD underwent a 5-[123I]iodo-3-[2(S)-2-azetidinylmethoxy]pyridine (5-I-A-85380) SPECT to visualize α4β2 nicotinic acetylcholine receptors (nAchR) and cognitive testing with the CERAD (Consortium to Establish a Registry for Alzheimer's Disease) battery to identify domains of cognitive dysfunction.In the CERAD, the IPD patients exhibited deficits in non-verbal memory, attention, psychomotor velocity, visuoconstructive ability, and executive functions. After Bonferroni correction for multiple comparisons, we found significant correlations between performance of the CERAD subtests Boston Naming Test (a specific test for visual perception and for detection of word-finding difficulties) and Word List Intrusions (a specific test for learning capacity and memory for language information) vs binding of α4β2 nAchR in cortical (the right superior parietal lobule) and subcortical areas (the left thalamus, the left posterior subcortical region, and the right posterior subcortical region).These significant correlations between the results of the CERAD subtests and the cerebral α4β2 nAchR density, as assessed by 5-I-A-85380 SPECT, indicate that cerebral cholinergic pathways are relevant to cognitive processing in IPD.

Background: IPX066, an investigational extended-release carbidopa-levodopa (CD-LD) preparation, has demonstrated a rapid attainment and prolonged maintenance of therapeutic LD plasma concentrations in advanced Parkinson's disease (PD). This phase-3 crossover study assessed its efficacy and safety vs. CDLD plus entacapone (CL + E).Methods: At baseline, all patients had motor fluctuations despite a stable regimen of CL + E or CD-LDentacapone combination tablets (CLE). The study included a 6-week conversion from CL + E or CLE to IPX066, followed by two 2-week, double-blind crossover treatment periods in randomized order, one on IPX066 (and placebo CL + E), the other on CL + E (and placebo IPX066), separated by 1-week open-label IPX066 treatment. The primary efficacy measure was mean percent daily "off" time during waking hours (from patient diaries).Results: Of 91 randomized patients, 84 completed the study. Their median daily LD dosage was 1495 mg from IPX066 and 600 mg from CL + E, corresponding, after correction for bioavailability, to an approximately 22% higher LD exposure on IPX066. Compared with CL + E, IPX066 demonstrated a lower percent "off' time (24.0% vs. 32.5%; p < 0.0001), lower "off' time (3.8 vs. 5.2 h/day; p < 0.0001), and higher "on" time without troublesome dyskinesia (11.4 vs. 10.0 h/day; p < 0.0001). Other endpoints, including patient-reported treatment preference, also favored IPX066 (p < 0.05). During double-blind treatment, 20.2% and 13.6% of patients reported adverse events on IPX066 and CL + E, respectively. The most common were dyskinesia (4 patients), insomnia (3), and confusional state (3) for IPX066, and fall (2) for CL + E.Conclusions: In advanced PD, IPX066 showed improved efficacy, compared with CL + E, and appeared to be well tolerated. (C) 2014 The Authors. Published by Elsevier Ltd.

Die frühzeitige Diagnose des Guillain-Barré-Syndroms (GBS) ist wegen der Gefahr einer respiratorischen Insuffizienz sowie lebensbedrohlicher vegetativer Komplikationen von großer Bedeutung. Problematisch ist, dass in der Frühphase des GBS wichtige Zeichen wie die Areflexie oder eine zytoalbuminäre Dissoziation im Liquor noch fehlen können und auch die typischen elektrophysiologischen Befunde sich oft erst im Krankheitsverlauf herausbilden. Ziel unserer Arbeit war es, in der Frühphase des GBS mit einer kombinierten Bestimmung von F-Wellen-Latenzen und foraminalen MEP eine für dieses Krankheitsbild typische polyradikuläre Läsion nachzuweisen.

Einleitung: Für die Untersuchung proximalen Nerven mit der konventionelle Neurografie steht routinemäßig nur die Messung der Überleitzeiten z.B. des N. axillaris, des N. musculocutaneus oder des N. suprascapularis nach Stimulation vom Erb'schen Punkt aus zur Verfügung. Die Hochvoltstimulation ist sehr schmerzhaft und ihre Verbreitung eingeschränkt. Mit der Magnetstimulation ist eine Reizung der Nervenwurzeln foraminal möglich. Anhand von Fallbeispielen soll dargestellt werden, dass die foraminale Magnetstimulation eine sinnvolle ergänzende Untersuchung zu der elektrischen Stimulation am Erb'schen Punkt sein kann.

l-2-Hydroxyglutaric aciduria (L2HGA) is a rare, autosomal recessive disease caused by a deficiency of l-2-hydroxyglutarate dehydrogenase (L2HGDH). This membrane-bound mitochondrial enzyme is prominently expressed in the brain1 and catalyzes the conversion of l-2-hydroxyglutaricacid (L2HG) to 2-ketoglutarate. The exact function is unknown, but the lack of L2HGDH is toxic by inducing oxidative stress and inhibiting mitochondrial creatine kinase in the cerebellum.2 Commonly, symptoms appear during infancy as slowly progressing deficits including psychomotor retardation, cerebellar ataxia, and epilepsy3; however, an acute worsening in adulthood has been described.4 A diagnosis can be achieved through the detection of elevated L2HG in the urine3,5 and although no treatment guidelines exist, positive effects were reported following treatment with flavin adenine dinucleotide in combination with levocarnitine or riboflavin.6,7 We report the case of a young woman with L2HGA, presenting with a fast progressive cerebellar syndrome that could be halted by a low lysine diet. ### Case report. A 24-year-old patient presented with a progressive movement disorder and a disabling tremor of the right hand that began 1.5 years ago. Her mother reported delayed motor and mental development …