Amyotrophic Lateral Sclerosis - Fronto-Temporal Dementia 9p21 - C9orf72

What is Amyotrophic Lateral Sclerosis - Fronto-Temporal Dementia 9p21 - C9orf72?

Amyotrophic Lateral Sclerosis - Fronto-Temporal Dementia 9p21 - C9orf72 is a rare disease.
There are currently no additional known synonyms for this rare genetic disease.

Ruddy et al., (2003) identified a large Dutch family with ALS in whom there was suggestve linkage to 16q. In a subsequent report, 2 further members had become affected, there were additional features of dementia and the family mapped to 9p13-21 (Vance et al., 2006). At PM the condition was tau negative, ubiquitin positive. Two further families mapping to 9p were reported by Valdmanis et al., (2007). A family with 9 affected members (Pearson et al., 2011), They had ALS or dementia or both. The condition mapped to 9p21
A noncoding repeat expansion in C9ORF72 has now bben found to be causative (DeJesus-Hernandez et al., 2011, Renton et al., 2011)
Snowden et al., (2012) screened 398 patients with frontotemporal dementia, progressive non-fluent aphasia, semantic dementia or a mixture of these, found C9ORF72 mutations in 8%. Motor neurone disease was present in 14%. Thirty-eight percent presented with psychosis. In the cohort of patients reported by Hsiung et al., (2012), the presence of neuronal inclusions in the cerebellar cortex that were ubiquitin/p62 positive but TDP-43 negative were a relatively specific finding.In the study by Whitwell et al., (2012) frontal atrophy, and cerebellar atrophy were found to be significant.
Further families from Italy, Sardinia and Germany were analysed by Chio et al., (2012) and the hexanucleotide expansion GGGGCC found in suffecient numbers to suggest that this gene might be responsible for about 40% of ALS of European ancestry. Given a family history, it ight account for 86% of cases (Gijselinck et al., 2012)
Personality changes may precede the onset of dementia by many years (Takada et al., 2012).
In a study by Lindquist et al., (2013), 3 patients had atypical Parkinson's disease or corticobasal disease or basal ganglia degeneration as an iinitial diagnosis. Basal ganglia disease was suggested by DAT density measurement in 2.

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What gene changes cause Amyotrophic Lateral Sclerosis - Fronto-Temporal Dementia 9p21 - C9orf72?

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 - Fronto-Temporal Dementia 9p21 - C9orf72?

The typical symptoms of the syndrome are:

How does someone get tested for Amyotrophic Lateral Sclerosis - Fronto-Temporal Dementia 9p21 - C9orf72?

The initial testing for Amyotrophic Lateral Sclerosis - Fronto-Temporal Dementia 9p21 - C9orf72 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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