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Niemann-Pick
Disease
By Molly Bishop
Introduction
 Three
types of Niemann-Pick (A,B, and C)
 More
prevalent in certain populations
(Ashkenazi Jew; French Canadian)
 lysosomal
 Lipids
storage disorder group
collect in the spleen, liver, and brain
 Discovered
by Albert Niemann in 1926
Type A and Type B
 Cells
are lacking the enzyme acid
sphingomyelinase (ASM)
 Sphingomyelin
 Type
A
collects in the cells and kills them
early months of life
death
age 2 or 3
 Type
years
B
milder
late childhood/teenage
death in early adulthood
Type C
 Usually
appears in childhood but can also
appear in early adulthood or infancy
 Individuals
 body
live into their 20s
does not properly break down
cholesterol or other lipids
 Most
frequently in people of French
Canadian ancestry in the Nova Scotia
area and Puerto Rican ancestry
Inheritance and Cause

Caused by mutations in NPC1,
NPC2,(chromosome 18) or
SMPD1(chromosome 11)

A and B caused by SMPD
mutation

C is caused by NPC1 and NPC2
mutations

autosomal recessive

Carriers do not experience any
symptoms
Job of NPC1 and NPC2
Symptoms
 Type
A
 Abdominal swelling
 Loss of motor skills
 Feeding problems
 Swollen lymph
nodes
 Brain damage
 Type
B
 Repeated respiratory
infections
 Some abdominal
swelling
 No nervous system or
brain problems
Symptoms
 Type
C
 Trouble moving limbs
 Enlarged spleen and liver
 Learning problems and dementia
 Seizures
 Loss of muscle tone and trouble walking
 Slurred speech
 Trouble moving eyes
Diagnosis
 Type
A and B can be diagnosed by
blood or bone marrow testing
 A skin biopsy for type C
 Other Options





Liver biopsy
Bone marrow aspiration
Slit-lamp eye exam
Sphingomyelinase assays (prenatal)
Genetic Testing
Treatment
 Type
A
 There is no cure
 Fatal within 3 years
of life
 Some of the
symptoms can be
managed
 Type
C
 Miglustat (Zavesca)
in Europe
 No definite cure
Treatment
 Type
B
 No definite cure
 Research has been done in




Bone marrow transplanting
Gene therapy
Enzyme replacement therapy
Possible cure from any of the above
Type D
A
variation of type C; originally classified
by its own group
 Same gene mutation as type C
 Found only in French-Canadian people in
the Nova Scotia region and people of
that ancestry
 Lack of NCP1 and NPC2 genes
Summary
3
types of Niemann-Pick: A, B, and C
 Lysosomal storage disease
 No cure for A and C, possible cure for B
 Type D is a variation on C
Type
Age of Death
Likelihood
Type A
2-3 years old
1 in 250,000
Type B
Early childhood
1 in 250,000
Type C
Infancy-early
adulthood
1 in 150,000
Bibliography
Ara Parseghian Medical Research Foundation. About Niemann Pick Type C. 2008. web.
30 November 2013. <http://www.parseghian.org/aboutnpc_diagnosis.html>.
Autosomal Recessive Inheritance of NP-C. web. <http://www.bripardun.com/npc.html>.
Greer, W. L., et al. The Nova Scotia (type D) form of Niemann-Pick disease is caused by a
G3097-->T transversion in NPC1. 1998. web. 30 November 2013.
<http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1377252/pdf/9634529.pdf>.
King, Michael W. Introduction to the Niemann Pick Diseases. 13 February 2013. web. 2013
November 2013. <http://themedicalbiochemistrypage.org/niemannpickdiseases.php>.
Niemann Pick. 2013. web. 30 November 2013. <http://www.mayoclinic.org/niemannpick/>.
Niemann Pick Disease. January 2008. web. 26 November 2013.
<http://ghr.nlm.nih.gov/condition/niemann-pick-disease>.
Niemann-Pick Disease. 31 October 2013. web. 26 Novmeber 2013.
<http://www.nlm.nih.gov/medlineplus/ency/article/001207.htm>.
Niemann-Pick Disease. 13 June 2012. web. 5 December 2013.
<http://www.patient.co.uk/doctor/Niemann-Pick-Disease.htm>.
Niemann-Pick Disease Overview-Types A, B, and C. 2009. web. 26 Novmember 2013.
<http://www.nnpdf.org/npdisease_01.html>.