Amyotrophic Lateral Sclerosis - Inclusion Body Dementia

What is Amyotrophic Lateral Sclerosis - Inclusion Body Dementia?

Amyotrophic Lateral Sclerosis - Inclusion Body Dementia is a rare disease. It is also known as ALS10 MNDID Motor neuron disease - inclusion dementia.

There is a subgroup of motor neuron disease and dementia in that in this group ubiquitin-immunoreactive inclusions are found (mostly in the hippocampal dentate fascia and the fronto-temporal cortex). There is a family reported by Polvikoski et al., (2003) with the inclusions in the proximal dendrites of the cerebellar Purkinje cells. Inheritance in this family was dominant. Some might present with a corticobasal degeneration-like picture in that limb rigidity, bradykinesia, dystonia and an alien limb phenomenon are found (Grimes et al., 1999). This category falls into 'Dementia-fronto-temporal type', and there might clinically be no signs of motor neuron disease. Some cases are sporadic, but dominant inheritance has been reported.
Mutations in TARDBP were found in 6 individuals with sporadic ALS and in 3 with FALS by Kabashi et al., (2008). All had ubiquitin-positive inclusions. Daoud et al., (2009), suggest that TARDBP mutations might account for 2% of sporadic ALS. Sixteen out of 314 ALS Italian patients had TARDBP mutations (Del Bo et al., 2009). There is a high frequency of the TARDBP p.Ala382Thr mutation in the Sardinian population (Orru et al., 2012

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* This information is courtesy of the L M D.

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What gene changes cause Amyotrophic Lateral Sclerosis - Inclusion Body Dementia?

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.


Uncertain - The exact mode of inheritance was unknown at the time this entry was recorded.


Sporadic - 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.


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:
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What are the main symptoms of Amyotrophic Lateral Sclerosis - Inclusion Body Dementia?

The typical symptoms of the syndrome are:
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How does someone get tested for Amyotrophic Lateral Sclerosis - Inclusion Body Dementia?

The initial testing for Amyotrophic Lateral Sclerosis - Inclusion Body Dementia 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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