Clinical diagnosis is conducted on individuals with age onset between late teens and late forties who show the initial characteristics for the recessive autosomal cerebellar ataxia. The following tests are performed: * MRI brain screening for cerebellum atrophy. * Molecular genetic testing for SYNE-1 sequence analysis. * Electrophysiologic studies for polyneuropathy * Neurological examination Prenatal diagnosis and preimplantation genetic diagnosis (PGD) can be performed to identify the mothers carrying the recessive genes for cerebellar ataxia. Types The classification of autosomal recessive ataxias takes into consideration the phenotypes There are different types of ataxias: * congenital ataxias (developmental disorders) * ataxias with metabolic disorders * ataxias with a DNA repair defect * degenerative ataxias * ataxia associated with other features.
Autosomal recessive cerebellar ataxia type 1
Autosomal recessive spastic ataxia of Charlevoix-Saguenay
Autosomal dominant cerebellar ataxia
Spinocerebellar ataxia type 6
Spinal muscular atrophy with lower extremity predominance 1
Benign hereditary chorea
Madras motor neuron disease
Spinocerebellar ataxia type 1