Remote digital assessment of amyotrophic lateral sclerosis functional rating scale - a multicenter observational study.

Objective: Remote self-assessment of the revised amyotrophic lateral sclerosis functional rating scale (ALSFRS-R) using digital data capture was investigated for its feasibility as an add-on to ALSFRS-R assessments during multidisciplinary clinic visits.

Methods: From August 2017 to December 2021, at 12 ALS centers in Germany, an observational study on remote assessment of the ALSFRS-R was performed. In addition to the assessment of ALSFRS-R during clinic visits, patients were offered a digital self-assessment of the ALSFRS-R - either on a computer or on a mobile application ("ALS-App").

Spinocerebellar ataxia type 14: refining clinicogenetic diagnosis in a rare adult-onset disorder.

Objectives: Genetic variant classification is a challenge in rare adult-onset disorders as in SCA-PRKCG (prior spinocerebellar ataxia type 14) with mostly private conventional mutations and nonspecific phenotype. We here propose a refined approach for clinicogenetic diagnosis by including protein modeling and provide for confirmed SCA-PRKCG a comprehensive phenotype description from a German multi-center cohort, including standardized 3D MR imaging.

Methods: This cross-sectional study prospectively obtained neurological, neuropsychological, and brain imaging data in 33 PRKCG variant carriers.

Multiple system atrophy mimicry in MRI: Watch out for paraneoplastic rhombencephalitis.

The hot cross bun (HCB) sign describes cruciform-shaped T2-weighted hyperintensities of pontocerebellar fibers within the pons and is a typical, but not specific imaging hallmark of the cerebellar variant of multiple system atrophy (MSA-C). We report a case of a 51-year-old woman who was first diagnosed with MSA-C based on progressive cerebellar ataxia, the HCB sign and T2-weighted hyperintensities in middle cerebellar peduncles on MRI. However, further diagnostic work-up revealed positive anti-amphiphysin antibodies in blood and cerebrospinal fluid and subsequently breast cancer.

Sonographic assessment of the optic nerve and the central retinal artery in idiopathic intracranial hypertension.

Transorbital sonography easily detects papilledema and enlarged optic nerve sheath diameters (ONSD) in IIH (idiopathic intracranial hypertension) patients. As the central retinal artery is located within the optic nerve, its hemodynamic properties might be affected by the increased pressure. In this study we assessed the diagnostic usefulness of transorbital sonography in IIH with a special focus on color Doppler imaging of the central retinal artery.

Distinct segregation of the pathogenic m.5667G>A mitochondrial tRNA mutation in extraocular and skeletal muscle in chronic progressive external ophthalmoplegia.

Chronic progressive external ophthalmoplegia (CPEO) is a frequent clinical manifestation of disorders caused by pathogenic mitochondrial DNA mutations. However, for diagnostic purposes skeletal muscle tissue is used, since extraocular muscle tissue is usually not available for work-up. In the present study we aimed to identify causative factors that are responsible for extraocular muscle to be primarily affected in CPEO.