Paula and Bobby
Parents of Lillie
What is Amyloidosis VI?
Amyloidosis VI is a rare disease. It is also known as Amyloidosis Vi Amyloidosis, Cerebroarterial, Icelandic Type CAA (Icelandic, Dutch) CAA (Worster-Drought) CAAWorsterDrought Cerebral Hemorrhage, Hereditary, With Amyloidosis Dementia - British type DementiaBritishtype FBD HCHWA-D HCHWA-I Hereditary Cerebral Hemorrhage With Amyloidosis; Hchwa Worster-Drought syndrome WorsterDroughtsyndrome.
Most families with this condition come from the north west of Iceland and from 2 fishing villages in Holland. A western Australian family, but with roots in the Dutch fishing villiage known as a hot spot, was reported by Panegyres et al., (2005). The first cerebral haemorrhage occurs between the ages of 35 and 65 years. This is often preceded by headaches, dizziness, nausea and previous transient ischaemic attacks. Some patients will present with dementia. A patient reported by Weeks et al., (2003) had a progressive supranuclear palsy-like picture.
The diagnosis is difficult during life but at post mortem amyloid deposits are found in cortical arterioles. The angiopathy is absent from the basal ganglia, brainstem, and spinal cord. In the Dutch patients, the amyloid angiopathy was localized to the cerebral and cerebellar cortex and to the covering arachnoid.
The gene involved is probably the amyloid precursor protein ie. the same as in a few families with Alzheimer's disease, but glutamic acid is mutated to glutamine at codon 693. In the Icelandic patients, there is a T to A substitution in codon 68 of cystatin C. The same mutation has been found in a sporadic case of the condition (Graffagnino et al., 1995). Abrahamson et al., (1992) have a simple and rapid diagnostic procedure using PCR and measurement of cystatin C in the CSF might be useful (Shimode et al., 1996). Sporadic cases, with rare exceptions, do not show the cystatin C mutation (McCarron et al., 2000). The mutationdoes not affect total amyloid beta protein, but effects the Abeta1-42:Abeta1-40 ratio and thereby transport across the blood-brain barrier (Maat-Schieman et al., 2005).
Mutations at APP692 can result in either presenile dementia or CAA (Hendriks et al., (1992). Roks et al., (2000), reported a similar family. The dementia in these families is compatible with Alzheimer's disease and Roks et al., (2000), suggest that a single genetic mechanism may underlie both conditions. A family with dominant dementia (from Iowa) and a 694 mutation, was reported by Grabowski et al., (2001). Locus duplication was reported by Rovelet-Lecruxet al., (2007).
Apolipoprotein E does not influence the course of the disease (Bornebroek et al., 1997), but other authors have found a high frequency of the epsilon2 allele (Nicoll et al., (1997)..
* This information is courtesy of the L M D.
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What gene changes cause Amyloidosis VI?
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.
OMIM Number - 105150 (please check the OMIM page for updated information)
The syndrome can be caused by mutations in the following gene/s location/s:
CST3 - 20p11.21
What are the main symptoms of Amyloidosis VI?
The typical symptoms of the syndrome are:
Intracranial hemorrhage, Generalized amyloid deposition, Autosomal dominant inheritance, Stroke, Cerebral ischemia, Cerebral hemorrhage, Dementia
How does someone get tested for Amyloidosis VI?
The initial testing for Amyloidosis VI 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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