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Clinical heterogeneity in a sibship with Niemann‐Pick disease type C
Author(s) -
Yatziv S.,
Gershon Z. LeibovitzBen,
Ornoy A.,
Bach G.
Publication year - 1983
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1983.tb01860.x
Subject(s) - fulminant , sibling , niemann–pick disease, type c , niemann–pick disease , genetic heterogeneity , disease , biology , genetics , phenocopy , medicine , pediatrics , pathology , immunology , psychology , developmental psychology , gene , phenotype
The clinical presentation of Niemann‐Pick type C is variable. However, in families hitherto described, the affected individuals in a given sibship show a similar clinical course. A family with histological and biochemical findings of Niemann‐Pick type C is described. Four of the affected siblings presented with an early onset and a fulminant course resembling Niemann‐Pick type A, whereas in the fifth sibling a later onset and a much slower neurological deterioration was observed. Genetic counseling in families with Niemann‐Pick type C should take into consideration the possibility of clinical heterogeneity within the same sibship.