Genotype-phenotype correlation in PRKN-associated Parkinson's disease.

Bi-allelic pathogenic variants in PRKN are the most common cause of autosomal recessive Parkinson's disease (PD). 647 patients with PRKN-PD were included in this international study. The pathogenic variants present were characterised and investigated for their effect on phenotype.

Cerebral Amyloid Angiopathy-Related Inflammation (CAA-rI): Three Heterogeneous Case Reports and a Focused Literature Review.

Cerebral amyloid angiopathy-related inflammation (CAA-rI) is a largely reversible, subacute encephalopathy, which is considered as a rare variant of cerebral amyloid angiopathy (CAA). Although the diagnosis of this inflammatory vasculopathy is generally clinico-pathologic, a probable or possible diagnosis can often be established based on current clinico-radiological diagnostic criteria. This is important since CAA-rI is considered as a treatable disorder, which most commonly occurs in the elderly population.

Long-term outcome of patients with neurological form of Wilson's disease compliant to the de-coppering treatment.

Background: A substantial proportion of Wilson's disease (WD) patients exhibit residual neurological symptoms. Data on the prognostic value of initial clinical features and treatment choices in WD patients compliant to the therapy is relatively sparse.

Aim: The aim of the present study was to identify predictors of the long-term outcome of patients with WD with good treatment adherence.

Optical coherence tomography in patients with Wilson's disease.

Objectives: Wilson disease (WD) is an autosomal recessive disorder that leads to copper accumulation and deposition in different organs, frequently affecting visual pathways. Recent studies have detected morphological changes of the retina in patients with WD using optical coherence tomography (OCT). Measuring the thickness of the retinal nerve fibre layer (RNFL) with OCT provides an objective assessment of integrity and morphological abnormalities of the retina.

Quantitative Assessment of Head Tremor in Patients with Essential Tremor and Cervical Dystonia by Using Inertial Sensors.

Tremor is most common among the movement disabilities that affect older people, having a prevalence rate of 4.6% in the population older than 65 years. Despite this, distinguishing different types of tremors is clinically challenging, often leading to misdiagnosis.