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Hereditary transthyretin amyloidosis:a case report of a newly described TTR variant Ile 107Met

Stefanie Müller, Barbara Tettenborn, Dagmar Schött & K. Altland

abstract

The most common form of hereditary amyloidosis is associated with mutations of the transthyretin (TTR) gene and shows autosomal
dominant inheritance. The TTR gene is located on chromosome 18 and more than 80 mutations have been identified so far with substantial differences in clinical presentation. The condition is characterised by progressive sensorimotor and autonomic neuropathy, although cardiovascular, renal, ocular and leptomeningeal involvement can be part of the clinical spectrum.

We report a 53-year-old Serb male with a new TTR variant, Ile 107Met, with no suggestive family history. He was first treated for carpal tunnel syndrome in 1991. Five years later he underwent vitrectomy on his right eye and three years later on his left eye due to vitreous opacities of unknown origin. He came to our neurological department in July 2002 with clinically and electrophysiologically evident sensorimotor axonal neuropathy with autonomic dysfunction. Deposits of amyloid were found in the subcutaneous fatty tissue of the abdominal wall. Diagnosis of TTR amyloidosis was finally made on the basis of sural nerve and rectal mucosa biopsy. Molecular genetic testing of the transthyretin gene detected a new methionine (Met) 107 variant. The clinical course of the disease was dominated by the rapidly progressive atrophic paresis and the patient became wheelchair-bound six months after definite diagnosis. Later on
epileptic seizures as well as mild cognitive impairment occurred causing us to suspect leptomeningeal involvement. The highly increased protein level in cerebrospinal fluid supported this hypothesis,but brain MRI and repeated EEG were normal.
   
keywords TTR, amyloidosis
   
citation Müller S, Tettenborn B, Schött D, & Altland K (2004). Hereditary transthyretin amyloidosis:a case report of a newly described TTR variant Ile 107Met. Presented at 172. Tagung der Schweizerischen Neurologischen Gesellschaft (Interlaken), 172. Tagung der Schweizerischen Neurologischen Gesellschaft (Interlaken).
   
type presentation (Deutsch)
date of publishing 21-12-2004
event 172. Tagung der Schweizerischen Neurologischen Gesellschaft (Interlaken) (172. Tagung der Schweizerischen Neurologischen Gesellschaft (Interlaken))
PubMed Schweiz Arch Neurol Psych 2004; 155:96
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