Amyloidosis type 5 - cranial neuropathy

What is Amyloidosis type 5 - cranial neuropathy?

Amyloidosis type 5 - cranial neuropathy is a rare disease. It is also known as CAA (Finnish) Gelsolin related CAA.

In 1969, Meretoja reported a number of families with a lattice corneal dystrophy and a cranial neuropathy. The onset was in the 3rd decade with the eye problem, followed, often years later by the cranial nerve palsies, especially 7th cranial nerve involvement. In some cases this in turn was followed by a mild peripheral neuropathy (absent SAPs and mild axonal fallout). The clinical picture also included skin changes, and bruises and pruritis were not uncommon. Over the age of 60 years most patients had baggy facial skin with suggestion of underlying atrophy. The kidneys, on biopsy, showed a moderate deposition of amyloid. Most subsequent patients are reported from Finland, but a small number of Japanese families have been described (Akiya et al., 1996, Ikeda et al., 2007).
The molecular pathology has been elucidated (Haltia et al., 1992). The novel amyloid fibril found is a degradation product of gelsolin, an actin-binding protein. AGel is deposited in tissues. The commonest mutation is a G to A substitution at position 654, and this has also been found in four American families, as well as Japanese and other families (Steiner et al., 1995).

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* This information is courtesy of the L M D.

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What gene changes cause Amyloidosis type 5 - cranial neuropathy?

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:
N/A

What are the main symptoms of Amyloidosis type 5 - cranial neuropathy?

The typical symptoms of the syndrome are:
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How does someone get tested for Amyloidosis type 5 - cranial neuropathy?

The initial testing for Amyloidosis type 5 - cranial 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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