There is currently no accepted classification of autosomal recessive cerebellar ataxias, a
group of disorders characterized by important genetic heterogeneity and complex …

Autosomal-recessive cerebellar ataxias (ARCAs) comprise a heterogeneous group of rare
degenerative and metabolic genetic diseases that share the hallmark of progressive …

Membranes in cells have defined distributions of lipids in each leaflet, controlled by lipid
scramblases and flip/floppases. However, for some intracellular membranes such as the …

Cerebellar and afferent ataxias present with a characteristic gait disorder that reflects
cerebellar motor dysfunction and sensory loss. These disorders are a diagnostic challenge …

Abstract In 2016, the Movement Disorder Society Task Force for the Nomenclature of
Genetic Movement Disorders presented a new system for naming genetically determined …

Objective To foster trial‐readiness of coenzyme Q8A (COQ8A)‐ataxia, we map the
clinicogenetic, molecular, and neuroimaging spectrum of COQ8A‐ataxia in a large …

The cerebellum governs motor coordination and motor learning. Infection with external
microorganisms, such as viruses, bacteria, and fungi, induces the release and production of …

Cerebellar ataxias (CAs) comprise a group of rare, neurological disorders characterized by
extensive phenotypic and genetic heterogeneity. The core clinical feature is the cerebellar …

Inborn errors of metabolism (IEM) are individually rare, but collectively numerous. The
application of tandem mass spectrometry (tandem MS) to newborn screening and prenatal …

Purpose Diagnosis of inherited ataxia and related diseases represents a real challenge
given the tremendous heterogeneity and clinical overlap of the various causes. We …