Adult-onset status epilepticus in patients with COQ8A coenzyme Q10 deficiency: A case series.

This case series describes the clinical features, diagnostic challenges, treatment approaches, and outcomes of three adult patients with COQ8A-related CoQ10 deficiency presenting with focal status epilepticus, who were effectively treated at the Department of Neurology, Philipps University Marburg, Marburg, Germany. The patients, all from consanguineous families with the first two being siblings, presented with a late onset of the disease, characterized by progressive cerebellar ataxia and epilepsy, with clinical deterioration and focal status epilepticus occurring in adulthood. The first patient exhibited myoclonic status, while the second and third patients presented with bilateral tonic-clonic seizures followed by focal status epilepticus manifesting with cortical blindness.

A novel gene variant in the voltage-dependent Kv3.3 channel in an atypical form of SCA13 with dominant central vertigo.

Potassium channel mutations play an important role in neurological diseases, such as spinocerebellar ataxia (SCA). SCA is a heterogeneous autosomal-dominant neurodegenerative disorder with multiple sub-entities, such as SCA13, which is characterized by mutations in the voltage-gated potassium channel Kv3.3 ().

Saccade, Pupil, and Blink Responses in Rapid Eye Movement Sleep Behavior Disorder.

Background: Parkinson's disease (PD) patients exhibit deficits in saccade performance, pupil function, and blink rate. Isolated REM (rapid eye movement) Sleep Behavior Disorder (RBD) is a harbinger to PD making them candidates to investigate for early oculomotor abnormalities as PD biomarkers.

Objectives: We tested whether saccade, pupillary, and blink responses in RBD were similar to PD.

Parkinson's disease: evolution of cognitive impairment and CSF Aβ profiles in a prospective longitudinal study.

Objective: To evaluate the evolution of cognitive impairment in relation to cerebrospinal fluid (CSF) profiles of amyloid-β (Aβ), total-Tau and phosphorylated-Tau in Parkinson's disease (PD).

Methods: Prospective, longitudinal, observational study up to 10 years with follow-up every 2  years. We assessed CSF profiles in 415 patients with sporadic PD (median age 66; 63% men) and 142 healthy controls (median age 62; 43% men).

[Validation of the Geriatric Check in a cohort of hospitalized neurological patients].

Background: The Geriatrie-Check was developed as a screening tool for the identification of older patients with geriatric treatment requirements in hospitals. It was recommended by the Baden-Wuerttemberg Hospitals Association for routine use in hospitals in 2014 although no published validation studies are available. The test takes 3-5 min.

Wearables for gait and balance assessment in the neurological ward - study design and first results of a prospective cross-sectional feasibility study with 384 inpatients.

Background: Deficits in gait and balance are common among neurological inpatients. Currently, assessment of these patients is mainly subjective. New assessment options using wearables may provide complementary and more objective information.

Corrigendum: White Matter Changes-Related Gait and Executive Function Deficits: Associations with Age and Parkinson's Disease.

[This corrects the article on p. 213 in vol. 9, PMID: 28713264.

White Matter Changes-Related Gait and Executive Function Deficits: Associations with Age and Parkinson's Disease.

White matter changes (WMC) are a common finding among older adults and patients with Parkinson's disease (PD), and have been associated with, e.g., gait deficits and executive dysfunction.

No relevant association of kinematic gait parameters with Health-related Quality of Life in Parkinson's disease.

Background: Health-related Quality of Life (HrQoL) is probably the most important outcome parameter for the evaluation and management of chronic diseases. As this parameter is subjective and prone to bias, there is an urgent need to identify objective surrogate markers. Gait velocity has been shown to be associated with HrQoL in numerous chronic diseases, such as Parkinson's disease (PD).

Insulin-Like Growth Factor 1 (IGF-1) in Parkinson's Disease: Potential as Trait-, Progression- and Prediction Marker and Confounding Factors.

Introduction: Biomarkers indicating trait, progression and prediction of pathology and symptoms in Parkinson's disease (PD) often lack specificity or reliability. Investigating biomarker variance between individuals and over time and the effect of confounding factors is essential for the evaluation of biomarkers in PD, such as insulin-like growth factor 1 (IGF-1).

Materials And Methods: IGF-1 serum levels were investigated in up to 8 biannual visits in 37 PD patients and 22 healthy controls (HC) in the longitudinal MODEP study.

Naturally occurring alpha-synuclein autoantibodies in Parkinson's disease: sources of (error) variance in biomarker assays.

Alpha-synuclein (α-Syn) plays a pivotal role in the pathophysiology of Parkinson's disease (PD), which can partly be modulated by innate and adaptive immune functions, and vice versa. Here, naturally occurring α-Syn autoantibodies (α-Syn-nAbs) may be effective against α-Syn pathoetiology and may serve as a PD biomarker. However, serum and cerebrospinal fluid α-Syn-nAbs levels still lack consistent evidence as required for a reliable PD biomarker.

Therapeutic efficacy of intranasally delivered mesenchymal stem cells in a rat model of Parkinson disease.

Safe and effective cell delivery remains one of the main challenges in cell-based therapy of neurodegenerative disorders. Graft survival, sufficient enrichment of therapeutic cells in the brain, and avoidance of their distribution throughout the peripheral organs are greatly influenced by the method of delivery. Here we demonstrate for the first time noninvasive intranasal (IN) delivery of mesenchymal stem cells (MSCs) to the brains of unilaterally 6-hydroxydopamine (6-OHDA)-lesioned rats.