Morbus Niemann-Pick Typ C View Full Text


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Article Info

DATE

2012-01

AUTHORS

E. Mengel, M. Beck, A.M. Das, F. Ebinger, S. Koch, H.H. Klünemann, M. Rohrbach, H. Runz, F. Rutsch, G.C. Korenke

ABSTRACT

M. Niemann-Pick Typ C (NPC) ist eine seltene, neuroviszerale lysosomale Speicherkrankheit. Auf der Basis einer Defizienz des NPC1- oder NPC2-Proteins kommt es zu einer Störung der Digestion von Plasmamembranlipiden mit konsekutiver lysosomaler Speicherung. Viszerale Befunde können der neurologischen Manifestation um Jahre vorausgehen. Der Verlaufstyp wird durch den Zeitpunkt und die Progression der Neurodegeneration bestimmt. Zur Behandlung der neurologischen Symptomatik steht eine Substratreduktionstherapie mit Miglustat zur Verfügung, die in einer klinischen Studie bei 72% der Patienten zu einer Stabilisierung bzw. Verlangsamung der Progredienz des Krankheitsbildes führte und heute in Europa die einzige zugelassene Therapieoption für diese Patienten ist. Der Krankheitsverlauf und der Nutzen einer Therapie mit Miglustat sollten regelmäßig standardisiert dokumentiert werden. Weitere Forschungsbemühungen zum molekularen Verständnis und zur Klinik des NPC sind notwendig, um betroffenen Patienten so früh wie möglich einer zielorientierten und wirksamen Behandlung zum Eindämmen der normalerweise progredienten Erkrankung zuzuführen. More... »

PAGES

47-54

References to SciGraph publications

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s00112-011-2532-1

DOI

http://dx.doi.org/10.1007/s00112-011-2532-1

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28 schema:description M. Niemann-Pick Typ C (NPC) ist eine seltene, neuroviszerale lysosomale Speicherkrankheit. Auf der Basis einer Defizienz des NPC1- oder NPC2-Proteins kommt es zu einer Störung der Digestion von Plasmamembranlipiden mit konsekutiver lysosomaler Speicherung. Viszerale Befunde können der neurologischen Manifestation um Jahre vorausgehen. Der Verlaufstyp wird durch den Zeitpunkt und die Progression der Neurodegeneration bestimmt. Zur Behandlung der neurologischen Symptomatik steht eine Substratreduktionstherapie mit Miglustat zur Verfügung, die in einer klinischen Studie bei 72% der Patienten zu einer Stabilisierung bzw. Verlangsamung der Progredienz des Krankheitsbildes führte und heute in Europa die einzige zugelassene Therapieoption für diese Patienten ist. Der Krankheitsverlauf und der Nutzen einer Therapie mit Miglustat sollten regelmäßig standardisiert dokumentiert werden. Weitere Forschungsbemühungen zum molekularen Verständnis und zur Klinik des NPC sind notwendig, um betroffenen Patienten so früh wie möglich einer zielorientierten und wirksamen Behandlung zum Eindämmen der normalerweise progredienten Erkrankung zuzuführen.
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