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  2. Cerebellar ataxia, neuropathy, vestibular areflexia syndrome

    en.wikipedia.org/wiki/Cerebellar_ataxia...

    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. Clinical findings include ataxia, sensory neuropathy, and ...

  3. Canavan disease - Wikipedia

    en.wikipedia.org/wiki/Canavan_disease

    Canavan disease. Canavan disease, or Canavan–Van Bogaert–Bertrand disease, is a rare and fatal autosomal recessive [1] degenerative disease that causes progressive damage to nerve cells and loss of white matter in the brain. [2] It is one of the most common degenerative cerebral diseases of infancy. [3] It is caused by a deficiency of the ...

  4. RFC1 - Wikipedia

    en.wikipedia.org/wiki/RFC1

    Biallelic intronic repeat expansions (a series of repeating nucleotide sequences) in the replication factor C subunit 1 (RFC1) gene causes cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS). [17] Within the poly (A) tail of an AluSx3 element in RFC1, there are eleven repeats of the pentanucleotide "AAAAG".

  5. Visual release hallucinations - Wikipedia

    en.wikipedia.org/wiki/Visual_release_hallucinations

    Diagnostic method. Psychosis, delirium, or dementia [1] Visual release hallucinations, also known as Charles Bonnet syndrome or CBS, are a type of psychophysical visual disturbance in which a person with partial or severe blindness experiences visual hallucinations. First described by Charles Bonnet in 1760, [2][3] the term Charles Bonnet ...

  6. Machado–Joseph disease - Wikipedia

    en.wikipedia.org/wiki/Machado–Joseph_disease

    Machado–Joseph disease (MJD), also known as Machado–Joseph Azorean disease, Machado's disease, Joseph's disease or spinocerebellar ataxia type 3 (SCA3), is a rare autosomal dominantly inherited neurodegenerative disease that causes progressive cerebellar ataxia, [1] [2] which results in a lack of muscle control and coordination of the upper and lower extremities. [3]

  7. Multiple system atrophy - Wikipedia

    en.wikipedia.org/wiki/Multiple_system_atrophy

    Multiple system atrophy (MSA) is a rare neurodegenerative disorder [1] characterized by tremors, slow movement, muscle rigidity, and postural instability (collectively known as parkinsonism), autonomic dysfunction and ataxia. This is caused by progressive degeneration of neurons in several parts of the brain including the basal ganglia ...

  8. Photic sneeze reflex - Wikipedia

    en.wikipedia.org/wiki/Photic_sneeze_reflex

    The photic sneeze reflex (also known as ACHOO syndrome, a contrived acronym for Autosomal-dominant Compelling Helio-Ophthalmic Outburst[1]) is an inherited and congenital autosomal dominant reflex condition that causes sneezing in response to numerous stimuli, such as looking at bright lights or periocular (surrounding the eyeball) injection.

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