TY - JOUR
T1 - Polyneuropathy in feline niemann-pick disease
AU - Cuddon, Paul A.
AU - Higgins, Robert J.
AU - Duncan, Ian D.
AU - Miller, Stephen P.F.
AU - Parent, Joane M.
AU - Moser, Ann B.
PY - 1989/12
Y1 - 1989/12
N2 - Two related cats, aged 5 months and 7 months, and 1 unrelated cat, aged 4 months, presented with signs of a progressive neuromuscular disease. Detailed electrophysiological studies suggested a primary demyelinating polyneuropathy, which was confirmed by muscle and nerve biopsies and on necropsy examination. Light and electron microscopic findings indicated a lysosomal storage disease, which was diagnosed as sphingomyelinase deficiency (Niemann-Pick disease) by enzyme analysis and lipid fractionation, although significant biochemical differences existed between the 2 related cats and the third cat. Several lines of evidence suggest that these 2 related cats were affected with a variant of type. A Niemann-Pick disease, whereas cat 3 represented classic Niemann-Pick disease type A.
AB - Two related cats, aged 5 months and 7 months, and 1 unrelated cat, aged 4 months, presented with signs of a progressive neuromuscular disease. Detailed electrophysiological studies suggested a primary demyelinating polyneuropathy, which was confirmed by muscle and nerve biopsies and on necropsy examination. Light and electron microscopic findings indicated a lysosomal storage disease, which was diagnosed as sphingomyelinase deficiency (Niemann-Pick disease) by enzyme analysis and lipid fractionation, although significant biochemical differences existed between the 2 related cats and the third cat. Several lines of evidence suggest that these 2 related cats were affected with a variant of type. A Niemann-Pick disease, whereas cat 3 represented classic Niemann-Pick disease type A.
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U2 - 10.1093/brain/112.6.1429
DO - 10.1093/brain/112.6.1429
M3 - Article
C2 - 2557121
AN - SCOPUS:0024796846
SN - 0006-8950
VL - 112
SP - 1429
EP - 1443
JO - Brain
JF - Brain
IS - 6
ER -