Genetic and phenotypic characterization of NKX6‐2‐related spastic ataxia and hypomyelination
European Journal of Neurology2019Vol. 27(2), pp. 334–342
Citations Over TimeTop 20% of 2019 papers
Viorica Chelban, Maysoon Alsagob, Katja Kloth, A. Chirita‐Emandi, Jana Vandrovcová, Reza Maroofian, Indran Davagnanam, S. Bakhtiari, Moeen Al-Sayed, Zuhair Rahbeeni, Hamad Alzaidan, Nancy T. Malintan, Jessika Johannsen, Stéphanie Efthymiou, Ehsan Ghayoor Karimiani, Kshitij Mankad, Saif Alshahrani, Mehran Beiraghi Toosi, Mai Khalid Alshammari, Stanislav Groppa, Nourelhoda A. Haridy, Laila AlQuait, Alya Qari, Rozeena Huma, Mustafa A. Salih, Rawan Almass, Faten Almutairi, Muddathir H. Hamad, Ibrahim A. Alorainy, Khushnooda Ramzan, Faiqa Imtiaz, Maria Puiu, Michael C. Kruer, Tajana Bierhals, Nicholas Wood, Dilek Çolak, Henry Houlden, Namik Kaya
Abstract
NKX6-2 mutations should be considered in patients with autosomal recessive, very early onset of nystagmus, cerebellar ataxia with hypotonia that rapidly progresses to spasticity, particularly when associated with neuroimaging signs of hypomyelination. Therefore, it is recommended that NXK6-2 should be included in hypomyelinating leukodystrophy and spastic ataxia diagnostic panels.
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