Paula and Bobby
Parents of Lillie
Amyotrophic Lateral Sclerosis - Juvenile Type, with Inclusions
What is Amyotrophic Lateral Sclerosis - Juvenile Type, with Inclusions?
Amyotrophic Lateral Sclerosis - Juvenile Type, with Inclusions is a rare disease. It is also known as Motor neuron disease (ALS/MND) inclusions - familial, juvenile.
This does not refer to the usual motor neuron disease because at post-mortem there are eosinophilic inclusions in some anterior horn cells and motor nuclei in the brain stem. There is also thalamic nucleus atrophy. In the case reported by Grunnet and Donaldson (1985) the onset was probably at 7 years and there was both pyramidal tract involvement as well as distal atrophy with severe wasting. At 34 years there was terminal dysphagia due to bulbar atrophy. A small number of additional cases have been reported from Japan (Oda et al., 1978, Aizawa et al., 2000). Most cases have shown rapid deterioration and lower motor neuron involvement has predominated. Note the condition 'Hered. spastic paraplegia-dementia, thin corpus callosum' because similar inclusions have been found.
The large Japanese family reported by Tagawa et al., (2007), had predominantly, a bulbar presentation. There were Bunina bodies, and ubiquitin-positive, skein-like inclusions in lower motor neurons. This family has now been shown to have TDP-43 mutations (Yokoseki et al., 2008).
* This information is courtesy of the L M D.
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What gene changes cause Amyotrophic Lateral Sclerosis - Juvenile Type, with Inclusions?
The syndrome is inherited in the following inheritance pattern/s:
Autosomal Dominant - In the case of autosomal dominant inheritance, just one parent is the carrier of the gene mutation, and they have a 50% chance of passing it onto each of their children. Syndromes inherited in an autosomal dominant inheritance are caused by just one copy of the gene mutation.
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 Amyotrophic Lateral Sclerosis - Juvenile Type, with Inclusions?
The typical symptoms of the syndrome are:
How does someone get tested for Amyotrophic Lateral Sclerosis - Juvenile Type, with Inclusions?
The initial testing for Amyotrophic Lateral Sclerosis - Juvenile Type, with Inclusions 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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