Senile systemic amyloidosis starting as bilateral carpal and left ulnar tunnel syndrome.
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Biomedical subjects
Takahiko Tokuda
Publications and source records attributed to Takahiko Tokuda.
Usefulness of [123I]metaiodobenzylguanidine ([123I]MIBG) myocardial scintigraphy in differentiating between Alzheimer's disease and dementia with Lewy bodies.
OBJECTIVE: To confirm the clinical usefulness of [123I] metaiodobenzylguanidine ([123I]MIBG) myocardial scintigraphy in the antemortem differential diagnosis between patients with Alzheimer's disease (AD) and those with dementia with Lewy bodies (DLB). PATIENTS AND METHODS: We compared cardiac [123I] MIBG uptake in 10 patients with AD with that in 10 patients with DLB. We selected the patients with AD or DLB by using stringent diagnostic criteria that combined commonly used clinical criteria with tau protein levels in cerebrospinal fluid and radiographical examinations. RESULTS: The heart to mediastinum ratio of [123I]MIBG uptake in all the patients with DLB was significantly lower than that in the patients with AD (p<0.01). CONCLUSION: This study confirms that [123I]MIBG myocardial scintigraphy is useful in the antemortem differential diagnosis of AD and DLB.
3-Iodobenzylguanidine↗
Transthyretin Tyr69-to-Ile mutation (double-nucleotide substitution in codon 69) in a Japanese familial amyloidosis patient with cardiomyopathy and carpal tunnel syndrome.
A 61-year-old Japanese woman with transthyretin amyloid (ATTR) Tyr69Ile, which was caused by the mutation of TTR gene TAC to ATC at codon 69, is described. The patient had no family history and developed carpal tunnel syndrome followed by congestive heart failure due to cardiac amyloidosis. Various phenotypes of familial transthyretin amyloidosis including FAP are caused by TTR variants with single amino-acid substitutions, the latter being caused by one-point mutations in the coding region of the TTR gene. This is the first report showing a novel double-nucleotide substitution in the causative TTR gene abnormality.
Amyloidosis, Familial↗
Clinical and pathological findings of non-Val30Met TTR type familial amyloid polyneuropathy in Japan.
Non-Val30Met TTR type FAP is being increasingly recognized; a total of 21 TTR gene mutations related to the development of non-Val30Met type FAP have been identified among Japanese. The clinical phenotypes of these FAP kindreds varied considerably corresponding to the different mutations of TTR gene. In the nervous system, peripheral nerve involvement sometimes started as a carpal tunnel syndrome in addition to peripheral somatic and autonomic neuropathy. Brain and spinal cord dysfunctions due to leptomeningeal amyloidosis infrequently appeared. Severe involvement of the heart was a common finding in the visceral organs, which might causally lead to a poor prognosis for the patients with this form of FAP. Several patients with ATTR non-Val30Met have recently undergone living-related partial liver transplantation, and their postoperative courses have been under careful investigation.
Amyloid Neuropathies, Familial↗
Progressive supranuclear palsy with asymmetric tau pathology presenting with unilateral limb dystonia.
We report an autopsy case of a 77-year-old Japanese man with a 7-year history of progressive unilateral left limb dystonia and arm levitation. Brain computed tomography showed fronto-temporal atrophy. The patient was diagnosed as having corticobasal degeneration. Histopathologically, the cerebral cortices, especially of the parasagittal region, and subcortical nuclei revealed numerous Gallyas/tau-positive cytoplasmic inclusions characteristic of progressive supranuclear palsy (PSP). Grumose degeneration was evident in the dentate nucleus. Astrocytic plaques were not present, but a small number of ballooned neurons were found in the fronto-temporal regions. The involvement by the PSP lesions was quite asymmetric in the affected areas, including the frontal cortices, basal ganglia, red nuclei, and inferior olivary nuclei, being more prominent on the side contralateral to the side of limb dystonia. The apparent unilateral dominance of PSP pathology may be relevant to the asymmetric clinical presentation of this patient.
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Temporary auxiliary liver transplantation from a living donor to an adult recipient with familial amyloid polyneuropathy.
A 33-year-old patient with familial amyloid polyneuropathy (FAP) underwent temporary auxiliary partial orthotopic liver transplantation (APOLT) from a living donor with a small-for-size graft. The auxiliary left lobar graft, which weighed only 230 g, was orthotopically transplanted after resection of the recipient's left lobe. The right portal vein was transected to induce compensatory hypertrophy of the left lobar graft. Posttransplant computed tomography showed atrophy of the native liver and hypertrophy of the graft, the volume of which had increased to 446 ml by postoperative day 41. The remnant native liver was removed 6 weeks after APOLT, and there were no signs of liver dysfunction during the postoperative course. Our experience with this case suggests that temporary APOLT is the treatment of choice, guaranteeing a sufficient margin of safety for both donor and recipient, in living donor liver transplants for FAP where the donor's left lobe is disproportionately small.
Adult↗
Transthyretin Thr60Ala Appalachian-type mutation in a Japanese family with familial amyloidotic polyneuropathy.
A Japanese case with familial amyloidotic polyneuropathy (FAP) associated with the transthyretin mutation Thr60Ala (Appalachian-type mutation) is described This is the first reported case of a non-Caucasian harboring this type of TTR mutation. The patient developed severe late-onset restrictive cardiomyopathy as well as sensorimotor and autonomic polyneuropathy, which were essentially similar to the previously reported clinical pictures of Appalachian-type FAP.
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Senile systemic amyloidosis presenting as bilateral carpal tunnel syndrome.
A 74-year-old woman who had developed numbness in both hands was diagnosed as having bilateral carpal and right cubital tunnel syndrome and underwent bilateral carpal and right cubital tunnel release. Transthyretin immunoreactive amyloid deposits were seen on specimens and were also detected in gastric, duodenal and ileal mucosal biopsies. The transthyretin gene analysis showed no mutation. This is a rare case of senile systemic amyloidosis presenting as carpal tunnel syndrome.
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Serial CT and MRI findings in a patient with isolated angiitis of the central nervous system associated with cerebral amyloid angiopathy.
We report serial CT and MRI findings in a biopsy-proven case of cerebral amyloid angiopathy (CAA) with isolated angiitis of the central nervous system (CNS). A 69-year-old man had developed dizziness, dementia, and generalized seizure during the preceding 4 years. An initial examination by brain CT and MRI showed bilateral symmetrical periventricular lesions closely resembling those of Binswanger's disease. Subsequently, the lesions expanded slowly, involving a large area of the right cerebral hemisphere with an obvious mass effect. Since a primary brain tumor was suspected, a brain biopsy was performed, and histopathological examination revealed amyloid beta protein CAA within the meningocortical vessels associated with perivascular monocytic cuffing, indicating the presence of isolated angiitis of the CNS. Multinucleated giant cells containing intracytoplasmic beta protein amyloid around a heavily amyloid-laden cortical vessel were also observed. This is the first case report to show sequential radiographical studies of the leukoencephalopathy associated with CAA and isolated angiitis of the CNS.
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