Kunihiko Makino

Frontotemporal dementia with co-occurrence of astrocytic plaques and tufted astrocytes, and severe degeneration of the cerebral white matter: a variant of corticobasal degeneration?

We report two patients who exhibited frontotemporal dementia (FTD) with unusual neuropathological features. The ages of the patients at death were 65 and 67xa0years, the disease durations were 6 and 5xa0years, and the clinical diagnoses were Pick’s disease and corticobasal degeneration (CBD), respectively. At autopsy, both cases exhibited neuropathological findings compatible with those of CBD, including atrophy of the frontal and parietal lobes, neuronal loss and gliosis in the cortical and subcortical regions, and presence of cortical ballooned neurons and astrocytic plaques (APs). In both cases, immunoblotting of insoluble tau exhibited the pattern of selective accumulation of four-repeat tau, a finding that is also compatible with CBD. However, severe degeneration was evident in the frontal and parietal white matter in both cases. Moreover, a striking finding was the widespread presence in the affected cortex of tufted astrocytes (TAs), which are characteristic of progressive supranuclear palsy (PSP). Neither co-occurrence of APs and TAs nor severe degeneration of the cerebral white matter is a feature of either CBD or PSP. No mutations were found in the tau gene in either case. In conclusion, the possibility that these two cases represent a new neuropathological phenotype of non-familial FTD rather than simply a variant of CBD cannot be completely excluded.

Magnetic resonance imaging of bone marrow for TAFRO syndrome

Abstract We report two cases of TAFRO syndrome, which is characterized by thrombocytopenia, anasarca, fever, renal insufficiency, and organomegaly. Magnetic resonance imaging (MRI) of the spine showed a dark medullary pattern in the bone marrow on the T1- and T2-weighted images of both patients. One patient showed complete resolution after treatment. Serial MRIs of the improved patient revealed a transition to a normal marrow pattern on both images, which might represent resolution of the disease.

Adult case of acute flaccid paralysis with enterovirus D68 detected in the CSF

Although once considered rare, incidence of enterovirus D68 (EV-D68) infections has been increasing throughout the 21st century, and is connected to cases of acute flaccid paralysis (AFP),1,2 a condition for which there is no established treatment. We report a 28-year-old Japanese woman admitted to our hospital with distal muscular weakness after experiencing upper respiratory symptoms and subsequently diagnosed with AFP.

Case of subacute cerebellar ataxia with anti-glutamic acid decarboxylase antibodies in cerebrospinal fluid, but not in serum

A 67‐year‐old woman presented with dysarthria and trunk and limb ataxia, which progressed in a subacute manner. Anti‐glutamic acid decarboxylase antibodies were negative in the serum, but were detected in the cerebrospinal fluid. Steroid pulse therapy was administered on the suspicion that the presence of anti‐glutamic acid decarboxylase antibodies in the cerebrospinal fluid might be associated with cerebellar ataxia. Treatment resulted in a marked improvement in clinical symptoms, leading to a diagnosis of anti‐glutamic acid decarboxylase antibody‐positive cerebellar ataxia. The outcome showed that measuring anti‐glutamic acid decarboxylase antibodies levels in the cerebrospinal fluid is important, even when levels are negative in the serum.

Improvement of symptoms following epileptic convulsion in a patient with Parkinson's disease

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Fabry disease associated with chronic meningitis and cerebral infarction

A 48‐year‐old man receiving enzyme replacement therapy for Fabry disease was admitted to Niigata Prefectural Shibata Hospital, Shibata, Japan, for a fever, headache, dysarthria and right hemiparesis. Aseptic meningitis and lacunar infarction were diagnosed, and symptomatic therapy and antiplatelet therapy improved the symptoms. As he had had a sub‐ever and headache once a month for 1 year, and developed a fever and headache again 2 months after discharge from our hospital, chronic meningitis was diagnosed. Prednisolone was introduced, and there was no relapse of meningitis thereafter. It is hypothesized that glycosphingolipids accumulated at the leptomeninges could induce aseptic meningitis and result in a shift to chronic meningitis. Chronic meningitis is implicated as the cause of a chronic headache in Fabry disease, and steroids could be a potential effective therapy.