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The causes of CCAS lead to variations in symptoms, but a common core of symptoms can be seen regardless of etiology. Causes of CCAS include cerebellar agenesis, dysplasia and hypoplasia, cerebellar stroke, tumor, cerebellitis, trauma, and neurodegenerative diseases (such as progressive supranuclear palsy and multiple system atrophy).
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 ]
The cerebellar peduncles are three paired bundles of fibres that connect the cerebellum to the brain stem. [1] Superior cerebellar peduncle is a paired structure of white matter that connects the cerebellum to the mid-brain. Middle cerebellar peduncles connect the cerebellum to the pons and are composed entirely of centripetal fibers.
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.
Lesions in the area of cerebellopontine angle cause signs and symptoms secondary to compression of nearby cranial nerves, including cranial nerve V (trigeminal), cranial nerve VII (facial), and cranial nerve VIII (vestibulocochlear). The most common cerebellopontine angle (CPA) tumor is a vestibular schwannoma affecting cranial nerve VIII (80% ...
Progressive cerebello-cerebral atrophy (PCCA) PCH2E 615851: VPS53: 17p13.3 Profound mental retardation, progressive microcephaly, spasticity, and early-onset epilepsy [7] PCH2F 617026: TSEN15: 1q25.3 Variable neurologic signs and symptoms, including cognitive and motor delay, poor or absent speech, seizures, and spasticity PCH3 608027: PCLO ...
SCA6 is typified by progressive and permanent cerebellar dysfunction. These cerebellar signs include ataxia and dysarthria, likely caused by cerebellar atrophy. Prior to diagnosis and the onset of major symptoms, patients often report a feeling of "wooziness" and momentary imbalance when turning corners or making rapid movements.
Behr syndrome is characterized by the association of early-onset optic atrophy with spinocerebellar degeneration resulting in ataxia, pyramidal signs, peripheral neuropathy and developmental delay. [1] [2] Although it is an autosomal recessive disorder, heterozygotes may still manifest much attenuated symptoms. [3]