OBJECTIVE: To describe a distinctive syndrome of nonprogressive encephalopathy, normo- or microcephaly, and early onset of severe psychomotor impairment in 15 white patients, including two siblings and two first cousins. METHODS AND RESULTS: MRI revealed bilateral cysts in the anterior part of the temporal lobe and white matter abnormalities with pericystic abnormal myelination and symmetric lesions in frontal and occipital periventricular regions. None of the usual inborn errors of metabolism/infectious diseases associated with leukoencephalopathy and bilateral anterior temporal lobe cysts were detected. CONCLUSIONS: These patients' clinical signs and cranial MRI abnormalities are strikingly similar and may represent a distinctive disease with autosomal-recessive inheritance: cystic leukoencephalopathy without megalencephaly.
OBJECTIVE: To describe a distinctive syndrome of nonprogressive encephalopathy, normo- or microcephaly, and early onset of severe psychomotor impairment in 15 whitepatients, including two siblings and two first cousins. METHODS AND RESULTS: MRI revealed bilateral cysts in the anterior part of the temporal lobe and white matter abnormalities with pericystic abnormal myelination and symmetric lesions in frontal and occipital periventricular regions. None of the usual inborn errors of metabolism/infectious diseases associated with leukoencephalopathy and bilateral anterior temporal lobe cysts were detected. CONCLUSIONS: These patients' clinical signs and cranial MRI abnormalities are strikingly similar and may represent a distinctive disease with autosomal-recessive inheritance: cystic leukoencephalopathy without megalencephaly.
Authors: Marco Henneke; Simone Diekmann; Andreas Ohlenbusch; Jens Kaiser; Volkher Engelbrecht; Alfried Kohlschütter; Ralph Krätzner; Marcos Madruga-Garrido; Michèle Mayer; Lennart Opitz; Diana Rodriguez; Franz Rüschendorf; Johannes Schumacher; Holger Thiele; Sven Thoms; Robert Steinfeld; Peter Nürnberg; Jutta Gärtner Journal: Nat Genet Date: 2009-06-14 Impact factor: 38.330
Authors: Matthias Kettwig; Katharina Ternka; Kristin Wendland; Dennis Manfred Krüger; Silvia Zampar; Charlotte Schob; Jonas Franz; Abhishek Aich; Anne Winkler; M Sadman Sakib; Lalit Kaurani; Robert Epple; Hauke B Werner; Samy Hakroush; Julia Kitz; Marco Prinz; Eva Bartok; Gunther Hartmann; Simone Schröder; Peter Rehling; Marco Henneke; Susann Boretius; A Alia; Oliver Wirths; Andre Fischer; Christine Stadelmann; Stefan Nessler; Jutta Gärtner Journal: Nat Commun Date: 2021-11-11 Impact factor: 14.919
Authors: Kerstin W Sinkevicius; Thomas R Morrison; Praveen Kulkarni; Martha K Caffrey Cagliostro; Sade Iriah; Samantha Malmberg; Julia Sabrick; Jennifer A Honeycutt; Kim L Askew; Malav Trivedi; Craig F Ferris Journal: Dis Model Mech Date: 2018-06-27 Impact factor: 5.758