Early onset ataxia with Marfanoid features a new varient of Friedreich s ataxia
نویسندگان
چکیده
منابع مشابه
early-onset friedreich's ataxia with oculomotor apraxia
friedreich’s ataxia (frda) is a rare autosomal recessive spinocerebellar ataxia which in the majority of cases is associated with a gaa-trinucleotide repeat expansion in the first intron of frataxin gene located on chromosome 9. the clinical features include progressive gait and limb ataxia, cerebellar dysarthria, neuropathy, optic atrophy, and loss of vibration and proprioception. ataxia with ...
متن کاملExonic deletions of FXN and early-onset Friedreich ataxia.
BACKGROUND Friedreich ataxia (FA) is the most frequent type of autosomal recessive cerebellar ataxia, occurring at a mean age of 16 years. Nearly 98% of patients with FA present with homozygous GAA expansions in the FXN gene. The remaining patients are compound heterozygous for an expansion and a point mutation. Patients who are compound heterozygous for an exonic deletion and an expansion are ...
متن کاملMolecular 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 ...
متن کاملVery Late-Onset Friedreich Ataxia with Laryngeal Dystonia
Friedreich ataxia (FRDA) is an autosomal recessive neurodegenerative disorder characterized by progressive gait and limb ataxia, cerebellar, pyramidal and dorsal column involvement, visual defects, scoliosis, pes cavus and cardiomyopathy. It is caused by a homozygous guanine-adenine-adenine (GAA) trinucleotide repeat expansion in intron 1 of the frataxin gene (FXN) on chromosome 9q13-q21.1. Ons...
متن کاملFriedreich ataxia: neuropathology revised.
Friedreich ataxia is an autosomal recessive disorder that affects children and young adults. The mutation consists of a homozygous guanine-adenine-adenine trinucleotide repeat expansion that causes deficiency of frataxin, a small nuclear genome-encoded mitochondrial protein. Low frataxin levels lead to insufficient biosynthesis of iron-sulfur clusters that are required for mitochondrial electro...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: IP Indian Journal of Neurosciences
سال: 2021
ISSN: 2581-8236,2581-916X
DOI: 10.18231/j.ijn.2021.015