Amyotrophic lateral sclerosis, often abbreviated as ALS, is a progressive neurodegenerative disease.Characterized by progressive motor, cognitive, and psychiatric symptoms, Huntington's disease exacts a heavy toll. Cerebellar ataxia, and the equal sign ( = 10), are both present.The return value of ...
Autosomal dominant cerebellar ataxia (ADCA) is a group of heterogeneous neurodegenerative disorders. By positional cloning, we have identified the gene strongly associated with a form of degenerative ataxia (chromosome 16q22.1-linked ADCA) that clinically shows progressive pure cerebellar ataxia. Detailed...
Andre´ Me´garbane´1,2 and Vale´rie Delague*,1 CAMOS (Cerebellar Ataxia with Mental retardation, Optic atrophy and Skin abnormalities) is a rare autosomal recessive syndrome characterized by a nonprogressive congenital cerebellar ataxia associated with mental retardation, optic atrophy, and ...
hereditary cerebellar ataxia motor ataxia nervous disorder neurological disease neurological disorder spinocerebellar disorder References in periodicals archive ? Type II syndrome is known as dyssynergia cerebellaris myoclonica; it is an autosomal-recessive, progressive, myoclonic epilepsy with ataxia secondary...
Ataxia telangiectasia (A-T) is a disease characterized by a progressive cerebellar ataxia accompanied by immuno- deficiency and increased risk of cancer1–3. A-T patients bear mutations in the kinase ATM (ataxia telangiectasia mutated), that along with ATR (ATM and Rad3-related), coordinates ...
Mutations in the synaptic nuclear envelope protein 1 (SYNE1) gene have been reported to cause a relatively pure, slowly progressive cerebellar recessive ataxia mostly identified in Quebec, Canada. Combining next-generation sequencing techniques and deep-phenotyping (clinics, magnetic resonance imaging, po...
Senataxin mutations in ALS4 are presumably gain-of-function, as loss-of-function mutations in the senataxin gene are responsible for autosomal recessive Ataxia with Oculomotor Apraxia type 2 (AOA2), and AOA2 carriers do not develop motor neuron disease [33], though this does not rule out a ...
LBSL (leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation) is an autosomal recessive white matter disorder with slowly progressive cerebellar ataxia, spasticity and dorsal column dysfunction. Magnetic resonance imaging shows characteristic abnormalities in the cerebral white ma...
Uncoordinated motions, including walking, are known as ataxia, while telangiectasias are dilated blood vessels, capillaries usually located beneath the skin's surface. Additionally, telangiectasias are spider-like veins that look like small red veins...
The affected patients suffered from mild intellectual disability, slowly progressive cerebellar ataxia, and variable affection of upper motor neuron, epilepsy, and pes cavus. Ophthalmological examination was not performed and corneal clouding was not obvious. Although not being the typical presentation of...