Is familial amyloid polyneuropathy rare? - DNA testing is changing the concept of this disease

ArticleNEUROLOGY. 69(7): 627-628 (2007)journal articl

Long-term Trial of Corticosteroid Therapy for the Recurrence of Cerebral Amyloid Angiopathy-related Hemorrhages : A Case Study Using [11C] BF-227 Amyloid-PET

Article信州医学雑誌 62(3):155-165(2014)journal articl

CPPD crystal deposition disease of the cervical spine: A common cause of acute neck pain encountered in the neurology department

Background: Calcium pyrophosphate dihydrate (CPPD) crystal deposition disease is one of the most common forms of crystal-associated arthropathy in the elderly. However, CPPD deposition on the cervical spine is less well known, and only a limited number of cases have been reported to date. Here, we report our recent clinical experience with CPPD crystal deposition disease of the cervical spine and describe the clinical features of this disease. Methods: Fourteen patients with clinically diagnosed CPPD crystal deposition disease of the cervical spine at our department during the period from January 2005 to December 2008 were analyzed retrospectively. Results: Patients ranged in age from 54 to 92 (mean +/- SD, 77.5 +/- 8.5). Chief symptoms of patients were acute posterior neck pain and fever. All patients had markedly restricted neck rotation. Serum CRP level was highly elevated in all patients (10.16 +/- 5.35 mg/dL). Computed tomography of the cervical spine demonstrated linear calcific deposits in the transverse ligament of atlas (crowned dens syndrome) in all patients. Calcific deposits were also found in other periodontoid structures and the ligamenta flava in some patients. Posterior neck pain, fever, and increased serum inflammatory indicators were relieved within 1 to 3 weeks by nonsteroidal antiinflammatory drugs (NSAIDs) or a combination of NSAIDs and prednisolone. Most of the patients were misdiagnosed as having other diseases before consultation. Conclusions: CPPD crystal deposition disease of the cervical spine is one of the most common underrecognized causes of acute neck pain in the neurology department, especially in elderly patients.ArticleJOURNAL OF THE NEUROLOGICAL SCIENCES. 296(1-2):79-82 (2010)journal articl

Marked shrinkage of amyloid lymphadenopathy after an intensive chemotherapy in a patient with IgM-associated AL amyloidosis

This is an electronic version of an article published in Amyloid 2009, Vol. 16, No. 3 : Pages 183-185. Amyloid is available online at: http://informahealthcare.com/doi/pdf/10.1080/13506120903151825A male patient with primary AL amyloidosis who had been suffering from systemic lymphadenopathy with IgM kappa-type M-proteinemia received two courses of VAD and high-dose melphalan with in vivo elimination of CD20(+) cells using rituximab followed by autologous peripheral blood stem cell transplantation. Four years after complete hematological remission he showed marked reduction in size of the amyloid-laden lymph nodes. Deposits of AL amyloid may regress from the tissue if the chemotherapy succeeds in persistent inhibition of the production of amyloidogenic immunoglobulin light chains.ArticleAMYLOID. 16(3):183-185 (2009)journal articl

Tuberculous Cold Abscess in the Axillary Lymph Nodes

Article信州医学雑誌 60(5): 257-259(2012)journal articl

Electrophysiological features of familial amyloid polyneuropathy in endemic area

The process of deterioration of peripheral nerve function in familial amyloid polyneuropathy (FAP) with amyloidogenic transthyretin (ATTR) Val30Met has not been systematically evaluated hitherto. We performed nerve conduction studies in 69 patients with FAP with ATTR Val30Met from one of the endemic areas in Japan. Sensory conduction velocity (SCV), motor conduction velocity (MCV), the size of the compound muscle action potential (CMAP) and distal latency (DL) were measured in the ulnar and tibial nerves. SCV was evaluated using the orthodromic method with needle recording electrodes. These electrophysiological parameters were compared with clinical stage of FAP and duration of neuropathy. When subjects noted minimal neuropathic symptoms only in the feet, motor and sensory nerve function in both the hands and feet had already been disturbed. Sensory nerve action potential on the foot disappeared more rapidly than CMAP. CMAP on foot muscle rapidly decreased during the initial 2 years and completely disappeared within 10 years. The duration of illness and deterioration parameters (CMAP of the abductor digiti minimi muscle, MCV and SCV of the ulnar nerve and DL of both ulnar and tibial nerves) were linearly correlated. CMAP was the most sensitive and reliable parameter to evaluate motor nerve degeneration in FAP.</.ArticleAMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS. 18(1):10-18 (2011)journal articl

Adalimumab Monotherapy in a Patient with Psoriatic Arthritis Associated with Chronic Renal Failure on Hemodialysis: A Case Report and Literature Review

We report a patient with psoriatic arthritis (PsA) who was successfully treated with adalimumab even while under hemodialysis therapy for associated chronic renal failure. Flow cytometry of circulating lymphocytes revealed an obvious decrease in both Th1 and Th17 cells after starting adalimumab. The latter returned to the pretreatment level in the course of adalimumab therapy, while the former did not. Adalimumab is a potent therapeutic option for PsA patients with chronic renal failure on hemodialysis, and Th1 in peripheral blood may reflect the disease activity

A novel nonsense mutation in the TITF-1 gene in a Japanese family with benign hereditary chorea

A Japanese family with a novel nonsense mutation in the TITF-1 gene (p.Y98X) is described. The proband showed severe generalized chorea, delayed motor development, subnormal intelligence, congenital hypothyroidism, bronchial asthma, and a history of pulmonary infection, all of which are characteristic features of Brain-Thyroid-Lung syndrome. On the other hand, her brother and mother showed a mild benign hereditary chorea (BHC) phenotype with congenital hypothyroidism. Intrafamilial phenotypic variation is common in BHC/Brain-Thyroid-Lung syndrome and suggests the existence of other genetic or environmental factors regulating TITF-1 function. Although choreic movement in BHC/Brain-Thyroid-Lung syndrome is recognized as non-progressive, the proband showed re-exacerbation of choreic movement at puberty. The dopamine agonist, ropinirole hydrochloride, reduced her choreic movements, suggesting that levodopa and/or dopamine agonists may compensate for underdeveloped dopaminergic pathways in this disorder.ArticleJOURNAL OF THE NEUROLOGICAL SCIENCES. 313(1-2):189-192 (2012)journal articl

Spinocerebellar ataxia type 6 (SCA6): Clinical pilot trial with gabapentin

The clinical effect of the GABAergic drug gabapentin was evaluated in 11 patients with spinocerebellar ataxia type 6 (SCA6). The total period of gabapentin treatment was 4 weeks, and outcome measures were determined with the International Cooperative Ataxia Rating Scales (ICARS) and postural sway studies. At week 4, 5 patients showed a decrease of the ICARS values by more than 10% compared with the pretreatment baseline. Eight patients showed a more than 10% decrease of the sway area (SA) and/or sway path length (SPL) values in postural sway Studies. The ICARS values and SA/SPL values were not necessarily consistent in each patient, but 3 patients showed a more than 10% decrease in the ICRAS, SA, and SPL values at week 4 when compared to the pre-treatment baseline. As a whole, the efficacy of gabapentin was not statistically confirmed in the 4-week trial because of the variation in efficacy in each patient, but the data are indicative that some SCA6 patients could benefit from gabapentin treatment.ArticleJOURNAL OF THE NEUROLOGICAL SCIENCES. 278(1-2):107-111 (2009)journal articl

Surgical removal of amyloid-laden lymph nodes: a possible therapeutic approach in a primary systemic AL amyloidosis patient with focal lymphadenopathy

We report a patient with primary systemic AL amyloidosis who suffered from remarkable bilateral cervical lymphadenopathy. Intensive chemotherapies, including two cycles of high-dose melphalan with autologous peripheral blood stem cell transplantation, were insufficiently effective for both the lymphadenopathy and amyloidogenic IgG lambda lambda-type M-protein in serum, but the patient showed complete haematological remission after extensive surgical removal of enlarged lymph nodes that had massive depositions of lambda lambda-type immunoglobulin light chain-derived amyloid. Lymphadenectomy may be a possible therapeutic approach with regard to both cosmetic and haematological aspects in primary systemic AL amyloidosis patients with focal lymphadenopathy.ArticleAMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS. 18(2):79-82 (2011)journal articl