T Arsov, KR Smith, J Damiano… - The American Journal of …, 2011 - Elsevier The molecular basis of Kufs disease is unknown, whereas a series of genes accounting for most of the childhood-onset forms of neuronal ceroid lipofuscinosis (NCL) have been identified. Diagnosis of Kufs disease is difficult because the characteristic lipopigment is largely confined to ... Cited by 1 - Related articles - All 3 versions
RM Boustany, C Ceuterick-de Groote… - … (Batten Disease), 2011 - books.google.com ... It is important to stress that, in contrast to some types of NCLs that can overlap with ANCL, there is no pigmen- tary degeneration of the retina in Kufsdisease. ... Clinical data INCIDENCE Fewer than 100 cases have been reported since the first description of Kufsdisease in 1925. ... Related articles - All 3 versions
FHG Farias, R Zeng, GS Johnson… - … of Disease, 2011 - Elsevier ... To see if ATP13A2 mutations could be responsible for some cases of human adult-onset NCL (Kufsdisease), we resequenced the ATP13A2 from 28 Kufsdisease patients. None of these patients had ATP13A2 sequence variants ... Cited by 2 - Related articles - All 2 versions
RC Cabot, NL Harris, JAO Shepard… - … England Journal of …, 2011 - Mass Medical Soc ... In summary, the findings are diagnostic of adult-type neuronal ceroid lipofuscinosis, or Kufs' disease. ... Burneo JG , Arnold T , Palmer CA , Kuzniecky RI , Oh SJ , Faught E . Adult-onset neuronal ceroid lipofuscinosis (Kufsdisease) with autosomal dominant inheritance in Alabama. ... Related articles
L Nosková, V Stránecký, H Hartmannová… - The American Journal of …, 2011 - Elsevier ... CLN6 (MIM 601780), CLN7 (MFSD8 [MIM 610951]), CLN8 (MIM 600143), and CLN10 (CTSD [MIM 610127])—have been identified in autosomal-recessive childhood and juvenile NCLs 1 and recently also in autosomal-recessive adult-onset NCL (Kufsdisease [MIM 204300]) 2 ...
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