Keiichiro Tsunoda

Potential multisystem degeneration in Asidan patients

OBJECTIVE To evaluate a potential multisystem involvement of neurodegeneration in Asidan, in addition to cerebellar ataxia and signs of motor neuron disease. METHODS We compared the new Asidan patients and those identified in previous studies with Parkinsons disease (PD, n=21), and progressive supranuclear palsy (PSP, n=13) patients using 123I-2β-Carbomethoxy-3β-(4-iodophenyl)-N-(3-fluoropropyl) nortropane (123I-FP-CIT) dopamine transporter single photon emission computed tomography (DAT-SPECT) and 123I-metaiodobenzylguanidine (MIBG) myocardial scintigraphy (Asidan, DAT: n=10; MIBG: n=15). RESULTS Both the PD and PSP groups served as positive controls for DAT decline. The PD and PSP groups served as a positive and negative control, respectively, of MIBG decline in the early phase H/M ratio. Of the Asidan patients, 60.0% showed DAT decline without evident parkinsonian features and 6.7% showed impaired MIBG in only the delayed phase H/M ratio. Combined with a normal range of the early phase H/M ratio, this phenotype was newly named Declined DAT Without Evident Parkinsonism (DWEP). INTERPRETATION The results of present study including DWEP suggest a wider spectrum of neurodegeneration for extrapyramidal and autonomic systems in Asidan patients than expected, involving cerebellar, motor system and cognitive functioning.

Behavioral and affective features of amyotrophic lateral sclerosis patients

Evaluating the cognitive and behavioral features in amyotrophic lateral sclerosis (ALS) patients is important for therapy and care. Fifty-seven ALS, 5 ALS with the behavioral variant of frontotemporal dementia (FTD) (ALS-FTD), 12 FTD patients, and 35 control subjects were evaluated by 10 different tests for cognitive and behavioral (mini-mental state examination (MMSE), Hasegawa dementia rating scale - revised (HDS-R), frontal assessment battery (FAB), Montreal cognitive assessment (MoCA), ALS-frontotemporal dementia-Questionnaire (ALS-FTD-Q), and anosognosia scale), affective (depression, apathy, and behavioral and psychological symptoms of dementia (BPSD)), and activities of daily living (ADL) assessments. The motor functions of ALS patients were evaluated by ALS functional rating scale - revised (ALSFRS-R) and modified Norris scale. ALS-FTD-Q scores showed intermediate behavioral disturbances of ALS patients between ALS-FTD and FTD patients and control subjects, but FAB, MoCA, and anosognosia scales did not. Both FAB and MoCA scores were significantly correlated with MMSE and HDS-R in ALS patients, but ALS-FTD-Q was not. ALS-FTD-Q score was significantly correlated with ALSFRS-R, apathy, BPSD, and ADL scores in ALS patients. Thus, in ALS patients, both FAB and MoCA tests were useful to assess frontal cognitive impairments, while ALS-FTD-Q was useful to detect mild behavioral and affective disturbances.

A migration case of Kii amyotrophic lateral sclerosis/parkinsonism dementia complex with the shortest stay in the endemic area and the longest incubation to develop the disease

Amyotrophic lateral sclerosis/parkinsonism dementia complex (ALS/PDC) is an endemic disease observed in the Kii peninsula, Guam, and Papua. We report a case of a 76-year old man with ALS/PDC of the Kii peninsula of Japan (Kii ALS/PDC). The patient was born and grew up in the Kii peninsula. He moved out at age three, and developed symptoms 73years later. He showed pyramidal sign, parkinsonian symptoms, and mildly impaired cognitive function. 131I-metaiodobenzylguanidine myocardial scintigraphy showed decreased cardiac sympathetic nerve function, and dopamine transporter single photon emission computed tomography imaging showed decreased 123I-N-ω-fluoropropyl-2β-carbomethoxy3β-(4-iodophenyl) nortropane accumulation. Cerebral blood flow showed hypoperfusion. Positron emission tomography showed widespread tau deposition in his brain. This is a migration case of Kii ALS/PDC with the shortest stay in the endemic area and the longest delay to develop the disease, indicating a genetic factor for the disease development in a considerable degree.

A Rare Case of Klinefelter Syndrome Accompanied by Spastic Paraplegia and Peripheral Neuropathy

Klinefelter syndrome is a chromosomal disorder with a typical karyotype of 47, XXY, accompanied by various neurological symptoms. We herein report the first case of Klinefelter syndrome with a rare mosaic form of 47, XXY and 48, XXXY, combined with both spastic paraplegia and peripheral motor neuropathy. This case showed spasticity and hyperreflexia with pathological reflexes and ankle clonus as well as muscle weakness in all extremities. A motor nerve conduction study and the magnetic motor evoked potential suggested motor axonal neuropathy and corticospinal tract disorders. The present case suggests that Klinefelter syndrome can present with both upper and lower motor neuron degeneration.

Fulminant Guillain-Barré syndrome with Takotsubo cardiomyopathy: Report of an autopsied case

We report a case of a 77‐year‐old Japanese man with a fever of up to 39.0°C, which subsided after 5 days. The patient showed fulminant Guillain–Barré syndrome (GBS), severe autonomic dysfunction with a labile blood pressure, an unstable heart rate from onset to death, and Takotsubo cardiomyopathy. Although Takotsubo cardiomyopathy was ameliorated by Day 14 (from admission in the hospital) with a normalized electrocardiogram, his blood pressure became markedly more variable and he died on Day 26. In the present report, we describe an autopsied case of GBS with Takotsubo cardiomyopathy.

Vogt-Koyanagi-Harada case accompanied by polyneuropathy

Vogt–Koyanagi–Harada disease (VKHD) is a systemic autoimmune disease that targets melanocyte‐rich tissues such as eye, central nervous system, inner ear, and skin. Here, we report a case of VKHD accompanied by polyneuropathy. After VKHD was diagnosed, depending on the involvement of bilateral ocular, auditory, and central nervous systems, he expressed muscle weakness, pain, and numbness in bilateral lower extremities. Nerve conduction studies suggested sensorimotor polyneuropathy, while a skin, muscle, and nerve biopsy suggested vasculitis. Steroid therapy improved his symptoms. The present case might suggest a relationship between VKHD and polyneuropathy.

Case of congenital fibrosis of the extraocular muscles type 1 with progressive cerebellar ataxia

A 70‐year‐old women presented classical CEFOM1 phenotypes such as bilateral ptosis and external ophthalmoplegia, but also progressive cerebellar ataxia, carrying a previously reported heterozygous missense mutation of KIF21A p.Arg941Gln. The present case is the first report of CFEOM1 showing cerebellar atrophy with hypoperfusion, mainly of the vermis, indicating that cerebellar function should be carefully evaluated in CFFOM1 patients.

Japanese sibling cases of multiple sclerosis presenting with different clinical phenotypes

Unlike in Western countries, only a few familial multiple sclerosis cases have been reported from Asian countries. Herein, we report on the characteristics of siblings with multiple sclerosis. Their parents were consanguineous, and the siblings showed different first symptoms of gait disturbance or double vision, with a clinical phenotype of primary progressive multiple sclerosis or relapse–remitting multiple sclerosis. Their human leukocyte antigen showed unique subtypes of DPB1 (0501/0901 or 0901/0901) and DRB1 (0406/1502 or 1502/1502).

An occult chronic progressive cervical and thoracic myelopathy without evident MRI lesion

Progressive myelopathy is caused by infectious, inflammatory, autoimmune, paraneoplastic, demyelinating, vascular, hereditary, degenerative, metabolic and toxic properties. Here, we report a case of a 53‐year‐old woman who showed a progressive cervical and thoracic myelopathy with muscle weakness in all limbs, and hypoesthesia in all limbs and trunk below the Th8 level without any evident magnetic resonance imaging lesions. She displayed rheumatoid factor, anti‐double stranded DNA antibody and hepatitis B surface antigen, as well as an elevated cerebrospinal fluid protein level. The paraneoplastic antibodies that we examined were negative. Our treatments (plasma exchange, steroid pulse therapy and immunoglobulin therapy) were slightly effective, but the symptoms did not improve completely. The present case suggests that the presence of a cervical and thoracic lesion without evident magnetic resonance imaging abnormalities required a careful follow up to discover occult lesions.

Marked hypertriglyceridemia induced by interferon-β1a therapy in a clinically isolated syndrome patient

Please cite this article as: Yuko Kawahara, Toru Yamashita, Yasuyuki Ohta, Kota Sato, Keiichiro Tsunoda, Mami Takemoto, Nozomi Hishikawa, Jun Eguchi, Koji Abe , Marked hypertriglyceridemia induced by interferon-β1a therapy for a clinically isolated syndrome patient. The address for the corresponding author was captured as affiliation for all authors. Please check if appropriate. Jns(2016), doi: 10.1016/j.jns.2016.12.052