Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy.

Purpose: Biallelic variants in UCHL1 have been associated with a progressive early-onset neurodegenerative disorder, autosomal recessive spastic paraplegia type 79. In this study, we investigated heterozygous UCHL1 variants on the basis of results from cohort-based burden analyses.

Methods: Gene-burden analyses were performed on exome and genome data of independent cohorts of patients with hereditary ataxia and spastic paraplegia from Germany and the United Kingdom in a total of 3169 patients and 33,141 controls.

Clinical, Radiological, and Laboratory Features of Spinal Cord Involvement in Primary Sjögren's Syndrome.

Objective: To identify radiological and laboratory hallmarks in patients with primary Sjögren's syndrome (pSS) presenting with spinal cord involvement.

Methods: Clinical and laboratory routine parameters were analyzed in a retrospective multicenter case series of four patients who developed myelitis associated with pSS. Serological and cerebrospinal fluid (CSF) measurements of pSS associated anti-SSA(Ro)-antibodies were initiated, and CSF neurofilament light chain (NFL) levels were assessed.

Neurocognitive functioning and health-related quality of life in adult medulloblastoma patients: long-term outcomes of the NOA-07 study.

Background: Combined radiochemotherapy followed by maintenance chemotherapy with cisplatin, lomustine and vincristine within the NOA-07 study resulted in considerable short-term toxicity in adult medulloblastoma patients. Here we investigated the long-term impact of this treatment, focusing on neurocognitive functioning and health-related quality of life (HRQoL).

Methods: Neurocognitive functioning and HRQoL scores over time were determined, and differences between the post-treatment and follow-up assessments were calculated up to 18 months for neurocognition and 60 months for HRQoL.

[Anesthesia and Multiple Sclerosis: What needs to be considered?].

Patients with rare neurological diseases are always a challenge in routine clinical activity. In particular, anesthetic interventions can be fraught with many problems. This article deals with the current state of knowledge on multiple sclerosis in anesthesia.

Immunocompetent young man with cerebral abscess and cortical venous infarction mimicking cerebritis caused by Gemella morbillorum.

Gemella morbillorum is an anaerobic gram-positive diplococcus and in most cases a harmless commensal, which occasionally causes infections in the central nervous system. We report on an immunocompetent young man with focal neurological symptoms and cephalgia caused by a cerebral abscess. Although successful treatment was done with neurosurgical intervention and antibiotic therapy, he suffered from a venous infarction 5 weeks after first diagnosis, which mimicked cerebritis as an early stage of relapsing abscess.

Acute inflammatory neuropathy with monoclonal anti-GM2 IgM antibodies, IgM-κ paraprotein and additional autoimmune processes in association with a diffuse large B-cell non-Hodgkin's lymphoma.

Lymphoproliferative disorders are often associated with autoimmune processes preceding or following the occurrence of a lymphoma. Here, we describe a patient with a history of recurrent diffuse large B-cell non-Hodgkin's lymphoma who suffered from an acute inflammatory neuropathy with specific monoclonal anti-GM2 IgM antibodies and associated IgM-κ paraprotein. It was possible in this case to prove that both, anti-GM2 IgM antibodies and IgM-κ paraprotein, share the same binding characteristic.

Bilateral posterior RION after concomitant radiochemotherapy with temozolomide in a patient with glioblastoma multiforme: a case report.

Background: Radiation induced optic neuropathy (RION) is a rare but severe consequence of radiation therapy that is associated with adjuvant chemotherapy, specifically therapy with vincristine or nitrosoureas. However, there is very little evidence regarding the occurrence of RION after concomitant radiochemotherapy with temozolomide.

Case Presentation: The case of a 63 year old woman with glioblastoma multiforme and concomitant radiochemotherapy with temozolomide is described.

Unusual presentations of patients with the mitochondrial MERRF mutation A8344G.

MERRF is typically characterized by myoclonus, generalized seizures and ragged-red fibers in muscular biopsy. We report a family (harbouring the A8344G mutation) with a late onset of the disease and an uncommon clinical manifestation, including episodes of reversible respiratory failure, the presence of ophthalmoplegia, and the absence of seizures and myoclonus in most subjects. We conducted histochemical, biochemical and molecular genetic studies.

A case of influenza vaccination induced Guillain Barré syndrome with normal cerebrospinal fluid protein and improvement on treatment with corticosteroids.

We report a case of a 62-y-old male developing an influenza vaccination induced Guillain Barré syndrome (GBS) showing all clinical and neuropathological symptoms of GBS except the characteristic elevation of protein levels in the cerebrospinal fluid. The patient improved under treatment with 100 mg prednisolone. In these cases the administration of corticosteroids might be considered as a treatment option as they might represent a subgroup of GBS with a different immunological response pattern.

Neuropsychological sequelae of diffuse traumatic brain injury.

Primary Objectives: Description and analysis of neuropsychological deficits following brain trauma with diffuse lesion probably corresponding to diffuse axonal injury (DAI).

Research Design: A series of 111 patients suffering from traumatic brain injury could be investigated neuropsychologically within the first 4 weeks after injury and re-assessed after 5-8 months. They included 11 subjects with CT-evidence of diffuse axonal injury, but no CT-signs of focal contusions.

The impact of aphasia on the patient and family in the first year poststroke.

This article reports a study that addressed coping strategies and possible related factors in 58 patients with aphasia and their relatives in the first year poststroke. Coping strategies, psychosocial changes, expectations of psychosocial adjustment, illness-related causal attributions, control beliefs, and activities of daily living were investigated in a longitudinal study. The data show that subjects with aphasia and their relatives experience significantly more severe professional and social changes than do subjects without aphasia and their families.