Guy Helman, Ayelet Zerem, Akshata Almad, Julia L Hacker, Sarah Woidill, Sunetra Sase, Alexandra N LeFevre, Josef Ekstein, Martin M Johansson, Chloe A Stutterd, Ryan J Taft, Cas Simons, Judith B Grinspan, Amy Pizzino, Johanna L Schmidt, Brian Harding, Yoel Hirsch, Angela N Viaene, Aviva Fattal-Valevski, Adeline Vanderver
BACKGROUND: A recurrent homozygous missense variant, c.160G>C;p.(Val54Leu) in HIKESHI, was found to cause a hypomyelinating leukodystrophy with high frequency in the Ashkenazi Jewish population. We provide extended phenotypic classification of this disorder based on clinical history of a further seven affected individuals, assess carrier frequency in the Ashkenazi Jewish population, and provide a neuropathological study. METHODS: Clinical information, neuroimaging, and biosamples were collected...
May 14, 2021: Pediatric Neurology