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Ataxia–telangiectasia-like disorder (ATLD) is an extremely rare condition, caused by mutation in the hMre11 gene, that could be considered in the differential diagnosis of A–T. Patients with ATLD are very similar to those with A–T in showing progressive cerebellar ataxia, hypersensitivity to ionizing radiation, and genomic instability ...
Friedreich's ataxia (FRDA) is a rare, inherited, autosomal recessive neurodegenerative disorder that primarily affects the nervous system, causing progressive damage to the spinal cord, peripheral nerves, and cerebellum, leading to impaired muscle coordination . The condition typically manifests in childhood or adolescence, with initial ...
Clinical findings are divided into major and minor symptoms. Major symptoms include intention tremor and gait ataxia. Minor symptoms such as parkinsonism, short-term memory deficit, and executive function decline can further contribute to a diagnosis of FXTAS. Radiological findings are similarly divided into major and minor categories.
Serine/threonine-protein kinase ATR, also known as ataxia telangiectasia and Rad3-related protein (ATR) or FRAP-related protein 1 (FRP1), is an enzyme that, in humans, is encoded by the ATR gene. [5] [6] It is a large kinase of about 301.66 kDa. [7] ATR belongs to the phosphatidylinositol 3-kinase-related kinase protein family.
There are three forms of spinocerebellar degeneration: Types 1, 2, 3. Symptoms begin during adulthood.) [citation needed] There are five typical autosomal-recessive disorders in which ataxia is a prominent feature: Friedreich ataxia, ataxia-telangiectasia, ataxia with vitamin E deficiency, ataxia with oculomotor apraxia (AOA), spastic ataxia.
ATM serine/threonine kinase or Ataxia-telangiectasia mutated, symbol ATM, is a serine/threonine protein kinase that is recruited and activated by DNA double-strand breaks (canonical pathway), oxidative stress, topoisomerase cleavage complexes, splicing intermediates, R-loops and in some cases by single-strand DNA breaks. [5]
Certain signs and symptoms of MSA also occur with other disorders, such as Parkinson's disease, making the diagnosis more difficult. [ 40 ] [ 41 ] [ 42 ] Features characteristic of OPCA include progressive cerebellar ataxia , leading to clumsiness in body movements, veering from midline when walking, wide-based stance, and falls without signs ...
Ataxia-pancytopenia syndrome; Ataxia-telangiectasia; Athletic heart syndrome; Athymhormic syndrome; ATR-16 syndrome; Atrophodermia vermiculata; Atypical hemolytic uremic syndrome; Austrian syndrome; Autoimmune disease; Autoimmune lymphoproliferative syndrome; Autoimmune polyendocrine syndrome type 1; Autoimmune polyendocrine syndrome type 2