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Cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS) is an autosomal recessive late-onset heredodegenerative multisystem neurological disease. The symptoms include poor balance and difficulty walking. Chronic cough and difficulty swallowing may also be present.
Cerebellar degeneration is a condition in which cerebellar cells, otherwise known as neurons, become damaged and progressively weaken in the cerebellum. [1] There are two types of cerebellar degeneration; paraneoplastic cerebellar degeneration , and alcoholic or nutritional cerebellar degeneration. [ 2 ]
Cerebellar ataxia is a form of ataxia originating in the cerebellum. [1] Non-progressive congenital ataxia (NPCA) is a classical presentation of cerebral ataxias. Cerebellar ataxia can occur as a result of many diseases and may present with symptoms of an inability to coordinate balance, gait, extremity and eye movements. [ 2 ]
Interneurons (also called internuncial neurons, association neurons, connector neurons, or intermediate neurons) are neurons that are not specifically motor neurons or sensory neurons. Interneurons are the central nodes of neural circuits , enabling communication between sensory or motor neurons and the central nervous system (CNS). [ 2 ]
Usually, individuals with this condition have cerebellar ataxia, areflexia, high-arched feet, optic nerve wasting/degeneration, sensorineural deafness. [5]These symptoms have variable onset, but they generally begin episodically after having a fever-causing infection such as the common cold, manifesting mainly as sudden-onset ataxic episodes and encephalopathy.
UBCs situated in cerebellar lobule VII are affected in some cases of Pick's disease, where they develop cytoskeletal anomalies and are recognized by antibodies to abnormally hyperphosphorylated tau proteins. [10] UBCs have also been implicated in the dysfunction of balance and motor coordination present in Down syndrome. [11]
Gillespie syndrome, also called aniridia, cerebellar ataxia and mental deficiency, [1] [2] [3] is a rare genetic disorder. The disorder is characterized by partial aniridia (meaning that part of the iris is missing), ataxia (motor and coordination problems), and, in most cases, intellectual disability .
Spinocerebellar ataxia type 6 (SCA6) is a rare, late-onset, autosomal dominant disorder, which, like other types of SCA, is characterized by dysarthria, oculomotor disorders, peripheral neuropathy, and ataxia of the gait, stance, and limbs due to cerebellar dysfunction. Unlike other types, SCA 6 is not fatal.