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

Abstract Purpose of Review Albumin plays a critical role in a wide range of disease
processes; however, the role of albumin in pediatric patients has not been well described …

Oculomotor assessment is an essential element of the neurological clinical examination and
is particularly important when evaluating patients with movements disorders. Most of the …

Chorea is defined by the presence of abnormal, involuntary, continuous, random
movements that results from a number of autoimmune, hereditary, vascular, metabolic, drug …

Abnormal eye movements are commonly observed in movement disorders. Ocular motility
examination should include bedside evaluation and laboratory recording of ocular …

Background STUB1 has been first associated with autosomal recessive (SCAR16, MIM#
615768) and later with dominant forms of ataxia (SCA48, MIM# 618093). Pathogenic …

ABSTRACT alpha‐Fetoprotein (AFP) is a biomarker of several autosomal recessive
cerebellar ataxias (ARCAs), especially ataxia telangiectasia (AT) and ataxia with oculomotor …

Inherited neuropathies are a heterogeneous group of slowly progressive disorders affecting
either motor, sensory, and/or autonomic nerves. Peripheral neuropathy may be the major …

Ataxia with oculomotor apraxia type 1 (AOA1) is an early onset progressive spinocerebellar
ataxia caused by mutation in aprataxin (APTX). APTX removes 5′-AMP groups from DNA, a …

MR imaging and spectroscopy in degenerative ataxias: toward... : Current Opinion in
Neurology MR imaging and spectroscopy in degenerative ataxias: toward multimodal, multisite …