Mutations in this gene have also been associated to Salt & Pepper syndrome : an autosomal recessive condition characterized by severe intellectual disability, epilepsy, scoliosis, choreoathetosis, dysmorphic facial features and altered dermal pigmentation ( doi : 10.1093 / hmg / ddt434)
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"' Status marmoratus "'is a congenital condition due to maldevelopment of the corpus striatum associated with choreoathetosis, in which the striate nuclei have a marble-like appearance caused by altered myelination in the putamen, caudate, and thalamus ( there is bilateral hyperdensities restricted to thalamus ).
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The following descriptions are commonly used in the diagnosis of AHC . The initial four criteria for classifying AHC were that it begins before 18 months of age, includes attacks of both hemiplegia on either side of the body, as well as other autonomic problems such as involuntary eye movement ( episodic monocular nystagmus ), improper eye alignment, choreoathetosis, and sustained muscle contractions ( dystonia ).
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