Mayumi Matsufuji

St.Mary's Hospital (Fukuoka - Japan), Hukuoka, Fukuoka, Japan

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Publications (5)4.03 Total impact

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    ABSTRACT: Severe motor and intellectual disability (SMID) patients cannot express their feelings with language. Understanding what they are thinking about or how they feel is thus difficult. This study focused on brain responses to hearing their own names to clarify the situation in these patients.
    Brain and Development. 12/2014;
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    ABSTRACT: Proteolipid protein 1 gene (PLP1) mutations result in a continuum of neurological findings characterized by X-linked hypomyelinating leukodystrophies of the central nervous system, from mild spastic paraplegia type 2 to severe Pelizaeus-Merzbacher disease. We report spastic paraplegia type 2 in three individuals in one family. A 29-year-old man developed progressive spastic quadriplegia from early childhood with dysarthria, ataxia, dysphagia, and intellectual delay, but he displayed no nystagmus. His mother developed adult-onset mild spastic diplegia with dementia developing in later life, whereas his sister exhibited spastic diplegia from childhood, complicated by motor developmental delay and dysphagia. All three individuals had initially mild but progressive neurological phenotypes, no nystagmus, normal brainstem auditory-evoked potentials, and demyelinating peripheral neuropathy, but with varying clinical severity. A 33-kb deletion encompassing exon 2 to 7 of PLP1 was identified in all three patients. Cloning of the junction fragment of the genomic recombination revealed a short palindromic sequence at the distal breakpoint, potentially facilitating a double-strand deoxyribonucleic acid break, followed by nonhomologous end joining. X-inactivation study and sequencing of the undeleted PLP1 alleles failed to explain the differences in severity between the two female patients. PLP1 partial deletion is a rare cause of spastic paraplegia type 2 and exhibits X-linked dominant inheritance with variable expressivity.
    Pediatric Neurology 10/2013; · 1.42 Impact Factor
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    ABSTRACT: Sever motor and intellectual disabilities (SMID) patients can't express their feelings with languages. That's why it is important to measure and analyze their brain activity. In this study, we tried to investigate the brain response to hearing subject's own name of healthy people and one patient with SMID by analyzing EEG. The results of time frequency analysis showed the inter trial coherence of a patient with SMID at theta oscillation was higher in response to SON specifically. On the other hand, that of healthy subjects was not so different with that in response to control condition. These results might reflect of the difference of lexical semantic process between the patient and healthy subjects.
    Conference proceedings: ... Annual International Conference of the IEEE Engineering in Medicine and Biology Society. IEEE Engineering in Medicine and Biology Society. Conference 07/2013; 2013:7412-7415.
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    ABSTRACT: In order to clarify the correlation between morphological characteristics and clinical features in epilepsy patients with unilateral hippocampal abnormality, morphological and morphometric magnetic resonance imaging studies were performed. We selected a series of childhood-onset epilepsy patients with unilateral hippocampal abnormality. The volume of hippocampal formation and anterior temporal lobe were measured, and the hippocampal morphology was compared with their clinical features. The morphological characteristics of the hippocampal formation were classified into three groups: group I, diffuse and severe volume reduction of the hippocampal formation and anterior temporal lobe with abnormal signal; group II, focal atrophy or focal abnormal signal in the hippocampal formation; and group III, no significant volume reduction but an enlargement of the temporal horn. All of the patients in group I had a history of status epilepticus in infancy. Temporal lobe epilepsy (TLE) was found in three of four patients. Group II contained TLE in three and frontal lobe epilepsy in one. One patient with intractable TLE had a history of status epilepticus in infancy. Group III contained miscellaneous epilepsies, including benign partial epilepsy with centro-temporal spikes in three of seven patients. Five patients in group III showed some characteristic features of hippocampal malrotation, which refers to incomplete hippocampal infolding. Diffuse and severe volume reduction of the hippocampal formation and anterior temporal lobe with unilateral hippocampal sclerosis was strongly associated with status epilepticus in infancy. Both hippocampal sclerosis and hippocampal malrotation suggest significant roles in the pathogenesis of epilepsy.
    Pediatrics International 08/2011; 54(1):19-26. · 0.88 Impact Factor
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    ABSTRACT: Neuropathology and neuroimaging of long-term survival cases of arginase deficiency are rarely reported. The magnetic resonance imaging (MRI) of our case showed severe multicystic white matter lesions with cortical atrophy, which were more severe compared with previous reports. In this patient, low-protein diet successfully reduced hyperammonemia, but hyperargininemia persisted. These severe neurological and MRI findings may be explained by a compound heterozygote, inheriting both of severe mutant alleles from her parents.
    Brain & development 04/2010; 33(1):45-8. · 1.74 Impact Factor