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Why do individuals with spinocerebellar ataxia experience loss of muscle control even though the ataxin-1 protein builds up only in the brain and spinal cord?
Individuals with spinocerebellar ataxia experience loss of muscle control due to the degeneration of specific neurons in the cerebellum and brainstem, which are crucial for coordinating movement. The accumulation of ataxin-1 protein disrupts normal cellular functions, leading to neuronal dysfunction and death. This disruption impairs the brain's ability to process and relay motor commands effectively, resulting in the characteristic lack of coordination and balance associated with the disorder. Even though the protein buildup occurs primarily in the brain and spinal cord, its effects cascade throughout the motor control pathways, leading to widespread motor deficits.
What is the differences between Machado-Joseph Disease and Multiple Sclerosis?
Machado-Joseph disease (MJD), also known as Machado-Joseph Azorean disease or Joseph's disease or Spinocerebellar ataxia type 3 (SCA3), is a rare autosomal, dominantly inherited neurodegenerative disease that causes progressive cerebellar ataxia,[1] which results in a lack of muscle control and coordination of the upper and lower extremities.[2] The symptoms are caused by a genetic mutation that results in an expansion of abnormal "CAG" trinucleotide repeats in the ATXN3 gene [1] that results in an abnormal form of the protein ataxin which causes degeneration of cells in the hindbrain.[2] Some symptoms, such as clumsiness and rigidity, make MJD commonly mistaken for drunkenness and/or Parkinson's disease.Multiple sclerosis (MS), also known as disseminated sclerosis or encephalomyelitis disseminata, is an inflammatory disease in which the insulating covers of nerve cells in the brain and spinal cord are damaged. This damage disrupts the ability of parts of the nervous system to communicate, resulting in a wide range of signs and symptoms,[1][2] including physical, mental,[2] and sometimes psychiatric problems.[3] MS takes several forms, with new symptoms either occurring in isolated attacks (relapsing forms) or building up over time (progressive forms).[4] Between attacks, symptoms may go away completely; however, permanent neurological problems often occur, especially as the disease advances.[4]Both of these answers are from Wikipedia.
