Cerebellar Ataxia - Mental Retardation, Peripheral Neuropathy

What is Cerebellar Ataxia - Mental Retardation, Peripheral Neuropathy?

Cerebellar Ataxia - Mental Retardation, Peripheral Neuropathy is a rare disease.
There are currently no additional known synonyms for this rare genetic disease.

Five Japanese children, two of whom were sibs were reported by Tachi et al., (2000) as a new syndrome. Despite the fact that early motor development was normal and the age of onset was given as between 2-5 years they were said to be mentally retarded and did not dement. They then became ataxic and had a variety of cerebellar signs. Moderate distal weakness and atrophy were noted and motor conduction velocities were only slightly delayed. SAPs were reduced in amplitude. A sural nerve biopsy showed a marked reduction in myelinated fibres. All other tests were negative except for the MRI which showed cerebellar atrophy.
NB This condition is thought by Le Ber et al., (2003) to be the same as 'Cerebellar ataxia - oculomotor apraxia' - see elsewhere.

* This information is courtesy of the L M D.

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What gene changes cause Cerebellar Ataxia - Mental Retardation, Peripheral Neuropathy?

The syndrome is inherited in the following inheritance pattern/s:

Autosomal Recessive - Autosomal recessive inheritance means an affected individual receives one copy of a mutated gene from each of their parents, giving them two copies of a mutated gene. Parents, who carry only one copy of the gene mutation will not generally show any symptoms but have a 25% chance of passing the copies of the gene mutations onto each of their children.

In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation that occurs during the reproductive process.

The syndrome can be caused by mutations in the following gene/s location/s:

What are the main symptoms of Cerebellar Ataxia - Mental Retardation, Peripheral Neuropathy?

The typical symptoms of the syndrome are:

How does someone get tested for Cerebellar Ataxia - Mental Retardation, Peripheral Neuropathy?

The initial testing for Cerebellar Ataxia - Mental Retardation, Peripheral Neuropathy can begin with facial genetic analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the type of genetic testing needed. A consultation with a genetic counselor and then a geneticist will follow.

Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.

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