Cerebellar Ataxia - Infantile with A Sensory Neuropathy, Optic Atrophy

What is Cerebellar Ataxia - Infantile with A Sensory Neuropathy, Optic Atrophy?

Cerebellar Ataxia - Infantile with A Sensory Neuropathy, Optic Atrophy is a rare disease.
There are currently no additional known synonyms for this rare genetic disease.

This condition is often preceeded by a few months (sometimes 12 months) of normal development, followed by a deteriorating neurological illness punctuated by crises, sometimes life-threatening, precipitated at times by an infection (Koskinen et al., 1994). Seizures (often unresponsive to treatment can occur during a crisis (Lonnqvist et al., 1998). The picture is that of a cerebellar ataxia and a sensory and autonomic neuropathy (although pain and temperature might be normal), with extrapyramidal and pyramidal signs later in the course of the illness. A The eye signs are optic atrophy and an external ophthalmoplegia and deafness may occur. The CSF lactates were normal, there were no ragged red fibers and none of the usual mitochondrial DNA mutations were detected. CDG disease was not excluded. The neuropathology (abstract) was reported by Lonnqvist et al., (1998).
Sibs were affected and there was consanguinity. The condition has already been mapped to 10q23.3-q24.1 (Nikali et al., 1995).
The gene involved is C1Oorf2 which encodes Twinkle, a mitochondrial replicative helicase and a rarer splice variant Twinky, of unknown function (Nikali et al., 2005). Heterozygous mutations of Twinkle cause PEO. A complex ! defect and mtDNA depletion in IOSCA has also been reported (Hakonen et al., 2008)
In a further report by Lonnqvist et al., (2009), a longterm follow-up of 23 patients with recessive twinkle mutations, has shown that refractory status epilepticus, migraine-like headachesand severe psychiatric symptoms have been common

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* This information is courtesy of the L M D.

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What gene changes cause Cerebellar Ataxia - Infantile with A Sensory Neuropathy, Optic Atrophy?

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 - Infantile with A Sensory Neuropathy, Optic Atrophy?

The typical symptoms of the syndrome are:

How does someone get tested for Cerebellar Ataxia - Infantile with A Sensory Neuropathy, Optic Atrophy?

The initial testing for Cerebellar Ataxia - Infantile with A Sensory Neuropathy, Optic Atrophy 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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