Fig. 1 | Journal of Human Genetics

Fig. 1

From: Recent advances in CGG repeat diseases and a proposal of fragile X-associated tremor/ataxia syndrome, neuronal intranuclear inclusion disease, and oculophryngodistal myopathy (FNOP) spectrum disorder

Fig. 1

Broadening a concept of FNOP spectrum disorder. The figure shows the original [7] and updated concepts of diseases including fragile X-associated tremor/ataxia syndrome (FXTAS), NIID1 (neuronal intranuclear inclusion disease type 1), OPML1 (oculopharyngeal myopathy with leukoencephalopathy type 1), oculopharyngodistal myopathies (OPDMs), which are caused by expanded CGG repeats. Since the original proposal (upper panel), the clinical spectrum of NOTCH2NLC-related disease is broader than previously thought and new types of OPDMs (types 2 and 4) have been identified. Thus, expanded CGG or CCG repeats cause a spectrum of diseases from leukoencephalopathy to oculopharyngodistal myopathy, called an FNOP-spectrum disorder

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