Causality assessment in liver injury induced by drugs and herbs remains a debated issue,
requiring innovation and thorough understanding based on detailed information. Artificial …

Inherited metabolic diseases or inborn errors of metabolism frequently manifest with both
hyperkinetic (dystonia, chorea, myoclonus, ataxia, tremor, etc.) and hypokinetic (rigid …

Improvements in functional genomic annotation have led to a critical mass of neurogenetic
discoveries. This is exemplified in hereditary ataxia, a heterogeneous group of disorders …

Background CACNA1A-related disorders present with persistent progressive and non-
progressive cerebellar ataxia and paroxysmal events: epileptic seizures and non-epileptic …

While rehabilitation therapies always help patients with ataxia, there are currently no FDA-
approved treatments for ataxia. Medications are available to treat symptoms that may …

Ataxia encompasses a large group of rare disorders characterized by irregular movements,
decreased coordination, imbalance, kinetic tremor, wide-based stance, and dysarthria …

The inositol 1, 4, 5-triphosphate receptor type 1 (ITPR1) gene encodes an InsP3-gated
calcium channel that modulates intracellular Ca2+ release and is particularly expressed in …

Background The high prevalence of mixed phenotypes of Early Onset Ataxia (EOA) with
comorbid dystonia has shifted the pathogenetic concept from the cerebellum towards the …

Paediatric movement disorders (PMDs) comprise a large group of disorders (tics,
myoclonus, tremor, dystonia, chorea, Parkinsonism, ataxia), often with mixed phenotypes …

Objectives Early onset ataxia (EOA) concerns a heterogeneous disease group, often
presenting with other comorbid phenotypes such as myoclonus and epilepsy. Due to genetic …