Paula and Bobby
Parents of Lillie
Amyloidosis, Hereditary, Transthyretin-Related
What is Amyloidosis, Hereditary, Transthyretin-Related?
Amyloidosis, Hereditary, Transthyretin-Related is a rare disease. It is also known as Amyloid Polyneuropathy, Familial; Fap Hereditary Amyloidosis, Transthyretin-related Transthyretin Amyloidosis.
Type VII is characterised by an onset in adulthood, sometimes of an acute coma, or a cerebro-vascular accident or visual problems. The neurological problems are related to involvement of the lepto-meninges and amyloid deposits in the subarachnoid vessels. Overlying this, there might be patchy fibrosis. The eye signs are related to amyloid deposits in the vitreous. The CSF could show a raised protein, an increase in cells, and be xanthochromic. At post mortem small to medium-sized vessels of the heart, GIT, liver, spleen, kidneys and adrenals might all be involved.
The condition maps to 18q11 and identical mutations to Amyloidosis type I, and novel mutations have been found in the transthyretin gene (Petersen et al., 1995, 1996, Herrick et al., 1996).
The family reported by Garzuly et al., (1996), is slightly unusual. The main progressive signs were dementia, ataxia and deafness. In addition there was nystagmus, spasticity hallucinations, urinary retention, constipation, sleeplessness and facial tics. A CT scan showed symmetric hyperdensities along the sylvian fissures. There was a transthyretin (TTRAsp18Gly) mutation. Two brothers, and on history, their mother all had a clinical picture resembling the Garzuly et al., (1996) family. They too had the Asp18Gly mutation. The MRI picture was the same as seen in superficial siderosis. Another patient with both oculoleptomeningeal amyloidosis plus type 1 disease had a TTR mutation at Leu12Pro (Brett et al., 1999). Eight patients with Y114C mutations were looked at by Nakamura et al., (2005), and 6 of the 8 had intense amyloid deposition of leptomeninges, vessel walls and parenchyma in spinal cord and the brain. Blevins et al., (2003) reported a large kindred with a new transthyretin variant Tyr69His and Dowell et al., (2007) reported a German family with a Val30Gly mutation. A novel Thr49Pro mutation has also been reported (Nakagawa et al., 2008).
* This information is courtesy of the L M D.
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What gene changes cause Amyloidosis, Hereditary, Transthyretin-Related?
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 - 105210 (please check the OMIM page for updated information)
The syndrome can be caused by mutations in the following gene/s location/s:
TTR - 18q12.1
What are the main symptoms of Amyloidosis, Hereditary, Transthyretin-Related?
The typical symptoms of the syndrome are:
Polyneuropathy, Paraplegia, Autosomal dominant inheritance, Seizure, Orthostatic hypotension due to autonomic dysfunction, Nystagmus, Adult onset, Progressive, Phenotypic variability, Stroke-like episode, Spasticity, Dementia, Diarrhea, Constipation, Dysautonomia, Dysarthria, Hearing impairment, Hemiparesis, Headache, Hyporeflexia, Increased CSF protein, Impotence, Visual impairment, Ataxia, Amyloidosis, Amyloid deposition in the vitreous humor, Peripheral axonal neuropathy, Urinary incontinence, Cardiomyopathy, Cardiomegaly, Tremor, Muscle weakness
How does someone get tested for Amyloidosis, Hereditary, Transthyretin-Related?
The initial testing for Amyloidosis, Hereditary, Transthyretin-Related 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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