Spinocerebellar ataxia type 3, spinocerebellar ataxia type 6 and Friedreich's ataxia are common hereditary ataxias. Different patterns of atrophy of the cerebellar cortex are well known. Data on cerebellar nuclei are sparse. Whereas cerebellar nuclei have long been thought to be preserved in spinocerebellar ataxia type 6, histology shows marked atrophy of the nuclei in Friedreich's ataxia and s...

OBJECTIVE To describe an unusual kindred with adult-onset ataxia and thalamic lesions detected by brain MRI. METHODS The authors characterized clinical, laboratory, and pathologic features of the disease and sought linkage to previously recognized ataxia loci. RESULTS Two sisters and a brother developed progressive ataxia, dysarthria, mild cognitive impairment, and sensorimotor neuropathy a...

neurodegenerative disorders, clinically characterized by a cerebellar syndrome with imbalance, unsteady gait and limb incoordination, dysarthria, and disturbed eye movements. Often there are additional neurological or systemic signs, which are highly variable depending on the genetic subtype and on the individual phenotype. The genetic background of heredoataxias has been largely identified dur...

BACKGROUND Friedreich's ataxia is one of the most common hereditary disorders of the nervous system. Dysarthria is a pervasive symptom of Friedreich's ataxia, yet the clinical presentation of speech symptoms remains poorly understood, leaving clinicians without the evidence required to develop therapy interventions. AIMS The research reported herein had three aims: the first was to document t...

Gene therapy is a potential therapeutic strategy for treating hereditary movement disorders, including hereditary ataxia, dystonia, Huntington's disease, and Parkinson's disease. Genome editing is a type of genetic engineering in which DNA is inserted, deleted or replaced in the genome using modified nucleases. Recently, clustered regularly interspaced short palindromic repeat/CRISPR associated...

Despite the many clinical and pathological data which have accumulated about the heredo-familial ataxias, Gardner's comment on Friedreich's disease almost 50 years ago, that ". . . the chief point to bear in mind about its aetiology is the tendency it shows to run in families" (Gardner, 1906), remains true of the group today. In consequence, the knowledge to be derived from the investigation of...

background: the most common neurologic manifestation of gluten sensitivity is ataxia, which accounts for up to 40% of idiopathic sporadic ataxia. timing of diagnosis of gluten ataxia is vital as it is one of the very few treatable causes of sporadic ataxia and causes irreversible loss of purkinje cells. antigliadin antibody (aga) of the igg type is the best marker for neurological manifestation...

Purpose To evaluate the clinical classification and characteristics of hereditary optic neuropathy patients in a single center in China. Method Retrospective case study. Patients diagnosed with hereditary optic neuropathy between January 2014 and December 2015 in the neuro-ophthalmology division in Shanghai Eye and ENT Hospital of Fudan University were recruited. Clinical features as well as ...

To an increasing extent, the desire to catalog and categorize neurologic disorders based on genotype– phenotype correlations is challenged by frequent departures from the syndromic categorizations that were commonplace in the pregenomic era. This challenge is not limited to the recent striking revelations concerning diseases attributable to noncoding, nonconventional mutations, such as repeat e...