Fukuyama Type Congenital Progressive Muscular Dystrophy (FCMD) – Special Comment on the Relationship Between the Case Reported by Nakayama et a1 and FCMD –

Ōsawa, Makiko; Suzuki, Noriko; Arai, Yusuke; Ikenaka, Harumi; Sumida, Sawako; Shishikura, Keiko; Suzuki, Haruko; Fukuyama, Yukio

doi:10.1111/j.1440-1789.1993.tb00206.x

Cited by 6 publications

(2 citation statements)

References 22 publications

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“…Such imbalance in the population of excitatory and inhibitory neurons is likely to be responsible for neurological disorders, including epilepsy; 27 this is consistent with a clinical manifestation that more than 50% of FCMD cases develop epileptic episodes. 3 However, there is no precedent showing similar results or convincing explanations for this issue.…”

Section: Discussionmentioning

confidence: 99%

“…Fukuyama congenital muscular dystrophy (FCMD), the second most common muscular dystrophy in Japan, is characterized by congenital muscular dystrophy associated with congenital malformations of the central nervous system (CNS) and the eye. 1 , 2 , 3 Fukutin is a gene responsible for FCMD. 4 The gene product protein fukutin participates in the glycosylation of α‐dystroglycan (α‐DG) by transferring ribitol‐5‐phosphate to the sugar chain.…”

Section: Introductionmentioning

confidence: 99%

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Fukutin regulates tau phosphorylation and synaptic function: Novel properties of fukutin in neurons

et al. 2022

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dence for novel properties of fukutin as follows: (i) there is an inverse relationship between fukutin expression and GSK-3β/tau phosphorylation in neurons; (ii) fukutin binds to GSK-3β and tau; (iii) tau phosphorylation occurs in non-GAD-immunoreactive neurons in FCMD brains; (iv) neuronal GAD expression is upregulated in the absence of fukutin; and (v) fukutin binds to GAD and synaptophysin in presynaptic vesicles of neurons.

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Section: Discussionmentioning

confidence: 99%