Author's response to reviews Title:Molecular and clinical study of a cohort of 110 Algerian patients with autosomal recessive ataxia Authors:

Molecular and Clinical Investigation of Iranian Patients with Friedreich Ataxia

Background: Friedreich ataxia (FRDA) is an autosomal recessive disorder caused by guanine-adenine-adenine (GAA) triplet expansions in the FXN gene. Its product, frataxin, which severely reduces in FRDA patients, leads to oxidative damage in mitochondria. The purpose of this study was to evaluate the triple nucleotide repeated expansions in Iranian FRDA patients and to elucidate distinguishable ...

Author's response to reviews Title:Molecular epidemiology of giardiasis among Orang Asli in Malaysia: application of the triosephosphate isomerase gene Authors:

Title:Molecular epidemiology of giardiasis among Orang Asli in Malaysia: application of the triosephosphate isomerase gene

Role of Mitochondria in Ataxia-Telangiectasia: Investigation of Mitochondrial Deletions and Haplogroups

Ataxia-Telangiectasia (AT) is a rare human neurodegenerative autosomal recessive multisystem disease that is characterized by a wide range of features including, progressive cerebellar ataxia with onset during infancy, occulocutaneous telangiectasia, susceptibility to neoplasia, occulomotor disturbances, chromosomal instability and growth and developmental abnormalities. Mitochondrial DNA (mtDN...

Author's response to reviews Title: Clinical features and survival of a large cohort of ADPKD patients receiving renal replacement therapy Authors:

Adult-onset autosomal recessive ataxia with thalamic lesions in a Finnish family.

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...