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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 Kufs disease. ... Clinical data INCIDENCE Fewer
than 100 cases have been reported since the first description of Kufs disease 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 (Kufs disease), we resequenced the ATP13A2 from 28 Kufs disease
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 (Kufs disease) with autosomal dominant inheritance in Alabama. ...
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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 (Kufs disease [MIM 204300]) 2 ...

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