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Certain signs and symptoms of MSA also occur with other disorders, such as Parkinson's disease, making the diagnosis more difficult. [ 39 ] [ 40 ] [ 41 ] 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 ...
[4] [9] Exposure to brain or spinal tissue from an infected person may also result in spread. [4] There is no evidence that sporadic CJD can spread among people via normal contact or blood transfusions, [4] although this is possible in variant Creutzfeldt–Jakob disease. [10] [11] Diagnosis involves ruling out other potential causes. [4]
For example, FLNA haploinsufficiency observed in individuals with ZTTK syndrome is the main cause of a rare brain disorder, periventricular nodular heterotopia. De novo LoF mutations in TUBG1 can result in microcephaly and cortical malformations due to compromised SON-mediated RNA splicing in affected ZTTK syndrome individuals.
2024 was packed with health care innovations, from a new blood test detecting Alzheimer’s disease to deep brain stimulation reversing paralysis. Heading into the New Year, medical experts are ...
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 ().
However, he does not further describe any symptoms of the disorder, making this an early but certainly non-specific reference to a CDS-like syndrome. [ 63 ] [ 18 ] One example from fictional literature is Heinrich Hoffmann 's character of "Johnny Head-in-Air" ( Hanns Guck-in-die-Luft ), in Struwwelpeter (1845).
Hereditary ataxias, such as Friedreich’s ataxia, are genetic, meaning they are caused by "a defect in a certain gene that is present from the start of a person’s life, inherited from your ...
Gerstmann–Sträussler–Scheinker syndrome (GSS) is an extremely rare, always fatal (due to it being caused by prions) neurodegenerative disease that affects patients from 20 to 60 years in age. It is exclusively heritable, and is found in only a few families all over the world. [ 1 ]