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Katsuhisa Nakajima - One of the best experts on this subject based on the ideXlab platform.

  • an unusual course of progressive multifocal leukoencephalopathy in a patient with idiopathic cd4 t lymphocytopenia
    Journal of Neurology Neurosurgery and Psychiatry, 1998
    Co-Authors: Tamaki Iwase, Eiichi Katada, Shigehisa Mitake, Yasukuni Tsugu, Hideki Kanai, Yasushi Otsuka, Hideka Nakazawa, Noriyuki Matsukawa, Kosei Ojika, Katsuhisa Nakajima
    Abstract:

    A case is reported of idiopathic CD4+T lymphocytopenia with progressive multifocal leukoencephalopathy and cervical lymph node tuberculosis. A 57 year old Japanese man presented with cervical lymphadenopathy and progressive neurological deficits, and six months later he developed Akinetic Mutism. He had a persistent severely depressed number of circulating CD4+T lymphocytes in the absence of human immunodeficiency virus infection. T1 weighted MRI showed a diffuse decreased signal intensity limited to the white matter without mass effect. A brain biopsy specimen had a morphology similar to that of progressive multifocal leukoencephalopathy. Polyomavirus antigen was detected in the brain lesion, and viral DNA was identified in nucleated blood cells and urine. Unusually this serious medical condition has lasted for more than three years without remission. To our knowledge this is the first patient with CD4+T lymphocytopenia with progressive multifocal leukoencephalopathy, suggesting that similar opportunistic infections should be considered even in previously normal people.

Bruce L Miller - One of the best experts on this subject based on the ideXlab platform.

  • first symptom in sporadic creutzfeldt jakob disease
    Neurology, 2006
    Co-Authors: Gil D Rabinovici, Stephe J Dearmond, Peining Wang, Johannes Levin, L Cook, M Pravdin, J Davis, Nicholas M Barbaro, Jennifer L Martindale, Bruce L Miller
    Abstract:

    Established clinical criteria for diagnosing sporadic Creutzfeldt–Jakob disease (sCJD) rely heavily on symptoms that appear late in the disease, such as myoclonus or Akinetic Mutism.1,2 Previous studies identified cognitive, cerebellar, and behavioral symptoms as common early symptoms of CJD (table).3-6 These studies designated symptoms as “early” based on chart reviews or based on existing symptoms when patients first presented to a physician. This study evaluates the very first symptom, which often occurs before patients present to medical attention, in a large cohort of patients with sCJD. View this table: Table 1 Comparison of UCSF first symptom study with a number of previous early symptom studies We reviewed over 400 potential CJD cases referred to the University of California San Francisco (UCSF) Memory and Aging Center from 2001 to 2004 and identified all cases of sCJD in which first symptoms were well documented. We included only cases of definite (pathology-proven) or probable CJD (World Health Organization [WHO] or modified Masters criteria).1,2 Cases …

Yasushi Iwasaki - One of the best experts on this subject based on the ideXlab platform.

  • an autopsy case of creutzfeldt jakob disease with a prion protein gene codon 180 mutation presenting with pathological laughing and an exaggerated startle reaction
    Neuropathology, 2017
    Co-Authors: Yasushi Iwasaki, Keiko Mori, Masumi Ito, Akio Akagi, Maya Mimuro, Tetsuyuki Kitamoto, Mari Yoshida
    Abstract:

    A 78-year-old Japanese woman presented with slow progressive disorientation and memory disturbances. Pathological laughing was observed at an early disease stage and continued for several months. Around the same time, the patient began to exhibit an exaggerated startle reaction and mild myoclonus. The pathological laughing and startle reaction disappeared before the patient reached an Akinetic Mutism state approximately 16 months after symptom onset. MRI showed extensive hyperintensity of the cerebral cortex and striatum on diffusion-weighted images, and swelling in the cerebral cortex on T2-weighted and fluid attenuated inversion recovery images. A prion protein (PrP) gene analysis revealed a V180I mutation with methionine homozygosity at codon 129. Neuropathological examination showed extensive spongiform changes with characteristic various-sized and non-confluent (VaSNoC) vacuoles in the cerebral neocortex and striatum. Gliosis and hypertrophic astrocytosis were generally mild in character. Neurons were relatively preserved in number. We believe that pathological laughing and an exaggerated startle reaction are possible pathognomonic findings of V180I genetic Creutzfeldt-Jakob disease. Based on the pathological findings of the present case, the presence of the VaSNoC-type spongiform changes with relative preservation of the neurons in the cerebral cortex and a lack of apparent brainstem involvement are associated at least in part with the pathological laughing and startle reaction.

  • three cases of creutzfeldt jakob disease with prion protein gene codon180 mutation presenting with pathological laughing and crying
    Journal of the Neurological Sciences, 2012
    Co-Authors: Yasushi Iwasaki
    Abstract:

    Abstract Although there are no reports of pathological laughing and crying being observed in patients with Creutzfeldt–Jakob disease (CJD), the author experienced three patients with CJD with prion protein gene codon180 mutation (V180I CJD) who showed this characteristic clinical finding. This finding was observed from the early disease stage in all 3 patients and continued for several months. Startle reaction was also remarkable in all patients, although myoclonus was generally mild. The dissociation between the startle reaction and myoclonus was suspected to be another feature of V180I CJD. The pathological laughing and crying co-occured with the startle reaction and stopped right before the onset of Akinetic Mutism, and the degree of both symptoms was almost parallel during this period. On the basis of MRI and autopsy findings, pathological laughing and crying was suspected of being induced by the widespread cerebral cortical involvement that is characteristic of V180I CJD. From the present observations, the author speculated that pathological laughing and crying may be a comparatively frequent observation in V180I CJD patients.

Alberto J Espay - One of the best experts on this subject based on the ideXlab platform.

  • teaching video neuroimages slow periodic myoclonus in subacute sclerosing panencephalitis and fulminant wilson disease
    Neurology, 2019
    Co-Authors: Roger M Meza, Mayra Rojas, Hans Schulz, Juan Correa, Alberto J Espay
    Abstract:

    Slow periodic myoclonus is a well-recognized phenotype of fulminant subacute sclerosing panencephalitis (video 1).1 This distinctive phenotype has not been previously recognized in another rapidly progressive disorder, fulminant Wilson disease. We documented slow periodic myoclonus in a 34-year-old Peruvian man who developed paranoid schizophrenia and, 6 months later, levodopa-unresponsive parkinsonism and falls, progressing into Akinetic Mutism (video 2). Prior to death, the diagnosis of Wilson disease was supported by ocular and neuroimaging features (figure), low ceruloplasmin (5.3 U/L), high urinary copper, and diffuse hepatopathy on echography. Slow periodic flexor myoclonus reflects cortical excitability and bears a poor prognosis.2 The EEG correlates are generalized, high-amplitude, quasiperiodic complexes.

Jafar Kafaie - One of the best experts on this subject based on the ideXlab platform.

  • Creutzfeldt-Jakob Disease: Analysis of Four Cases.
    Frontiers in Neurology, 2016
    Co-Authors: Ali Al Balushi, Marshall W. Meeks, Ghazala Hayat, Jafar Kafaie
    Abstract:

    Background: Creutzfeldt-Jakob disease (CJD) is a rare, rapidly progressive neurodegenerative disease that almost always results in death in under a year from onset of symptoms. Here, we report four cases of CJD with different clinical presentations diagnosed at our institution over two-year period. Cases: The first patient is an 82-year-old woman who presented with depression, cognitive decline and word-finding difficulty over 4 weeks. The patient deteriorated neurologically to Akinetic Mutism and death within 6 weeks of presentation. The second patient is a 54-year-old woman with liver cirrhosis who presented with confusion, ataxia and multiple falls over 4 weeks. She was treated initially for hepatic encephalopathy, but continued to progress to Mutism, startle myoclonus and obtundation. Death occurred within 4 weeks of presentation. The third patient is a 58-year-old woman who presented with an 8-week history of confusion, urinary incontinence, Parkinsonism, ataxia and myoclonus. Death occurred within 2 months from presentation. The fourth patient is a 67-year-old man who presented with a 6-week history of headache, blurred vision, ataxia and personality change and progressed to confusion, myoclonus, Akinetic Mutism and obtundation. Death occurred within 3 weeks from presentation. Conclusion: These 4 cases highlight the varied possible clinical presentations of CJD and demonstrate the importance of considering CJD in patients with atypical presentations of rapidly progressive cognitive decline. To diagnose CJD, brain biopsy remains the gold standard. However, the presence of CSF protein 14-3-3, typical MRI findings and suggestive EEG abnormalities all support the diagnosis.