TY - JOUR
T1 - Neuronal ceroid lipofuscinoses
AU - Chabrol, Brigitte
AU - Caillaud, Catherine
AU - Minassian, Berge
PY - 2013/5/3
Y1 - 2013/5/3
N2 - Neuronal ceroid lipofuscinoses (NCL) represent a group of autosomal recessive neurodegenerative disorders, presenting with myoclonic epilepsy, psychomotor delay, progressive loss of vision, and early death. Four main clinical forms have been delineated (infantile, late infantile, juvenile, and adult), but many other variants have also been described. At least 14 genetically distinct NCL, designated CLN1 to CLN14, are presently known.The identification of the deficient protein and/or the genetic defect is required for a specific diagnosis, which is necessary for a reliable genetic counseling in at-risk families.
AB - Neuronal ceroid lipofuscinoses (NCL) represent a group of autosomal recessive neurodegenerative disorders, presenting with myoclonic epilepsy, psychomotor delay, progressive loss of vision, and early death. Four main clinical forms have been delineated (infantile, late infantile, juvenile, and adult), but many other variants have also been described. At least 14 genetically distinct NCL, designated CLN1 to CLN14, are presently known.The identification of the deficient protein and/or the genetic defect is required for a specific diagnosis, which is necessary for a reliable genetic counseling in at-risk families.
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U2 - 10.1016/B978-0-444-59565-2.00038-1
DO - 10.1016/B978-0-444-59565-2.00038-1
M3 - Article
C2 - 23622391
AN - SCOPUS:84876848155
SN - 0072-9752
VL - 113
SP - 1701
EP - 1706
JO - Handbook of clinical neurology / edited by P.J. Vinken and G.W. Bruyn
JF - Handbook of clinical neurology / edited by P.J. Vinken and G.W. Bruyn
ER -