A novel homozygous change of CLCN2 (p.His590Pro) is associated with a subclinical form of leukoencephalopathy with ataxia (LKPAT)

J Neurol Neurosurg Psychiatry. 2017 Oct;88(10):894-896. doi: 10.1136/jnnp-2016-315525. Epub 2017 May 4.

Elisa Giorgio¹, Giovanna Vaula², Paolo Benna^{3

4}, Nicola Lo Buono^{5

6}, Chiara Maria Eandi⁷, Daniele Dino⁸, Cecilia Mancini¹, Simona Cavalieri⁹, Eleonora Di Gregorio⁹, Elisa Pozzi¹, Marta Ferrero¹, Maria Teresa Giordana^{2

3}, Christel Depienne^{10

11}, Alfredo Brusco^{1

9}

¹ Department of Medical Sciences, Medical Genetics Unit, University of Torino, Torino, Italy.
² Department of Neurology, Città della Salute e della Scienza University Hospital, Torino, Italy.
³ Department of Neurosciences 'Rita Levi Montalcini', University of Torino, Torino, Italy.
⁴ Department of Neurosciences and Mental Health, Città della Salute e della Scienza University Hospital, Torino, Piemonte, Italy.
⁵ Department of Medical Sciences, Laboratory of Immunogenetics, University of Torino, Torino, Italy.
⁶ San Raffaele Diabetes Research Institute (DRI), San Raffaele Hospital, Milano, Italy.
⁷ Department of Surgical Sciences, Eye Clinic, University of Torino, Torino, Italy.
⁸ Department of Neurosciences, Città della Salute e della Scienza University Hospital, Neuroradiology Unit, Torino, Italy.
⁹ Medical Genetics, Città della Salute e della Scienza University Hospital, Torino, Italy.
¹⁰ Département de Médecine translationnelle et Neurogénétique, IGBMC, CNRS UMR 7104/INSERMU964/Université de Strasbourg, Illkirch, France.
¹¹ Laboratoire de cytogénétique, Institut de génétique médicale d'Alsace, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.

No abstract available

Keywords: CLCN2; ClC-2; LKPAT; intramyelinic edema; leukoencephalopathy.

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