Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis
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The possibility of a patient with familial ATTR amyloidosis receiving a liver from an asymptomatic variant TTR carrier is remote [corrected]. However, in 2008, it was reported that this unlikely event occurred in a patient in Portugal. We report our protocol for early diagnosis and management of this entity.
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Although spinal cord stimulation has been reported to be effective for controlling neuropathic pain in diabetic neuropathy, it has rarely been investigated in other peripheral neuropathies. We describe, for the first time, the efficacy of spinal cord stimulation for refractory neuropathic pain in a patient with transthyretin Val30Met associated familial amyloid polyneuropathy (FAP ATTR Val30Met). ⋯ Because conventional symptomatic therapies, including nonsteroidal anti-inflammatory drugs, antiepileptic drugs, and tricyclic antidepressants did not ameliorate pain, he underwent bilateral lumbar spinal cord electrical stimulation at high frequency and low voltage at the level of Th12 vertebral body and this was markedly effective. Our case expands the application of spinal cord stimulation, which should be considered as an alternative therapeutic approach for relief of neuropathic pain, which can be extremely distressful for patients and may lead to an impaired quality of life.
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Cerebral amyloid angiopathy (CAA) is a frequent finding in the brains of patients with Alzheimer's disease (AD). CAA may be complicated with CAA-associated intracerebral haemorrhage (CAAH). Previous studies have revealed matrix metalloproteinase (MMP) expression in a mouse model of CAA and in human intracerebral haemorrhage. Here we studied the involvement of MMPs in human CAA and CAAH. ⋯ This is the first human study showing local MMP-19 immunoreactivity in the Aβ-amyloid-laden blood vessels in CAA, suggesting that MMPs may be involved in CAA.
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Report of five rare or previously unknown amyloidogenic transthyretin mutations disclosed in Sweden.
The number of amyloidogenic transthyretin (TTR) mutations described in the literature is more than 100. However, for several mutations, the phenotype has been described in a few individuals only; thus, the knowledge of the clinical course and the outcome after therapeutical interventions such as liver transplantation is limited. We describe the phenotype associated with five rare amyloidogenic TTR mutations that lately were discovered in Sweden: ATTR Val30Leu, Ala45Ser, Leu55Gln, Gly57Arg and Tyr69His of which ATTR Gly57Arg is previously unknown. ⋯ Likewise, carpal tunnel syndrome was found or had been present in all cases except the case with the ATTR Val30Leu mutation. The phenotype of the ATTR Tyr69His mutation was characterised by oculo-meningeal symptoms with seizures and a steadily progressing dementia, symptoms rarely found in ATTR amyloidosis, but similar to those previously described for this mutation, where all cases appear to originate from one Swedish family. Two patients with the ATTR Leu55Gln and Ala45Ser mutations have been subjected to liver transplantation, but echocardiographic examination has revealed an increasing cardiomyopathy after transplantation in both cases, the ATTR Leu55Gln patient succumbed 2 years after transplantation from progressive disease.