Erythrokeratodermia with ataxia

Partial Spiky Acantholysis due to Loss of Desmosomal Attachments in Erythrokeratodermia Cardiomyopathy Syndrome

“…In a similar vein, other disorders of epidermal differentiation have characteristic microscopic findings, and biopsy may be helpful (Table 2) [7][8][9][10][11][12]. For example, epidermolytic hyperkeratosis is a marker of keratin 1 and/or keratin 10 variants, whether in a congenital ichthyosis like epidermolytic ichthyosis, epidermolytic palmoplantar keratoderma, linear epidermal nevi, or epidermolytic acanthoma [2].…”

Integrated analysis of human genetic association study and mouse transcriptome suggests LBH and SHF genes as novel susceptible genes for amyloid-β accumulation in Alzheimer’s disease

“…Furthermore, using SKAT, another way to obtain gene-based statistics, and integration with mouse transcriptome data, we observed several strong candidate genes: ELOVL4 (elongation of very long chain fatty acids-like 4) was implicated for the biosynthesis of fatty acids in the pathogenesis of inherited macular degeneration (Zhang et al 2001 ), severe neurodevelopmental disorder characterized by ichthyosis, spastic quadriplegia, mental retardation (Aldahmesh et al 2011 ), spinocerebellar ataxia-34 (SCA34) and erythrokeratodermia (Giroux and Barbeau 1972 ). THAP4 (thap domain-containing protein 4) was listed as one of the potential candidates associated with brain voxel through neuroimaging (Stein et al 2010 ).…”

Clinical spectrum, genetic complexity and therapeutic approaches for retinal disease caused by ABCA4 mutations

“…Phenotypes caused by ELOVL4 mutations are clinically, genetically and pathophysiologically very different from the “real” Stargardt disease due to mutations in ABCA4 (STGD1). While the macular dystrophy phenotype of the dominant forms of the disease may somewhat resemble STGD1, the recessive forms express spinocerebellar ataxia 34 ( Giroux and Barbeau, 1972 ; Turcotte Gauthier, 2010 ), ichthyosis, spastic quadriplegia and, mental retardation ( Aldahmesh et al, 2011 ), among others. All forms of the disease are due to defects in fatty acid metabolism ( Agbaga et al, 2008 ).…”