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...

The spinocerebellar ataxia recessive type 10 is a genetic form associated with ANO10 gene mutations. Affected individuals present ataxia, hyperreflexia, ocular movement disorders and cerebellar atrophy. homozygous variant in the NP_060545.3:p.Asn114* 2-nucleotide deletion that would cause introduction of premature stop codon at same position, has not been previously described scientific literat...

the hereditary ataxias are a group of genetically defined neurological diseases which are characterized by heterogeneous clinical presentations. ataxia is defined as imbalance and lack of coordination. mental retardation associated with ataxia has been reported in some of the known and recently identified syndromes. in this review, we describe some known and novel genes that cause familial ment...

Ataxia can be classified according to the onset into episodic, acute, intermittent and chronic ataxia. Acute ataxia in children is caused by CNS tumors, trauma, CNS infection, toxins, metabolic causes or stroke. Recurrent ataxia can be due to metabolic causes, seizures, basilar artery migraine or toxins. Chronic ataxia is usually the result of hereditary ataxia, CNS tumors, congenital anomalies...

Friedreic’s Ataxia is a disease characterized by modification of the FRDA gene on chromosome 9q13. Affection this protein induces altered expression frataxin. When altered, molecular changes and cell death arise due to iron accumulation in mitochondria elevation reactive oxygen species. The damage occurs mostly neurons, causing neuronal impairment; however, alterations also occur heart, cardiac...

Abstract Introduction: Spinocerebellar ataxia 3 (SCA3) is a hereditary disease associated with progressive cerebellar and extracerebellar degeneration. Although there no effective therapy for SCA3, some of its symptoms can be relieved symptomatic treatment. Identifying the presence this signs in patients may contribute to their clinical management thus improve quality life. Objective: To identi...

Gold quantum clusters are therapeutic in preclinical models of Friedreich ataxia.

Friedreich's ataxia is an autosomal recessively inherited neurodegenerative disorder caused by expansions of an unstable GAA trinucleotide repeat in the STM7/X25 gene on chromosome 9q. We studied the (GAA)n polymorphism in 178 healthy controls and 102 patients with idiopathic ataxia. The repeat size ranged from 7 to 29 (GAA)n motifs on normal chromosomes and from 66 to 1360 trinucleotide repeti...

balint’s syndrome is a rare neurological disorder associated with bilateral parieto-occipital damage which was described by rezsö bálint in 1909.the syndrome is manifested clinically by the presence of a hemispatial negligence. the lesion is usually inside parietooccipital region bilaterally in most cases but may also be compromised angular convolutions, the dorsolateral area of the occipital l...