Abetalipoproteinemia or Bassen-Kornzweig disease, an autosomal recessive disorder of young adults, is caused by mutations in a gene on chromosome 9, which encodes the microsomal triglyceride transfer protein (MTP). The disease presents with malabsorption of fat, acanthocy-tosis (thorny erythrocytes), mental retardation, cerebel-lar dysfunction, peripheral neuropathy, and pigmentary retinopathy.

The pathology consists of axonal degeneration of the peripheral nerves, degeneration of the posterior columns of the spinal cord, and deposits of finely granular lipopigments in peripheral nerves, sensory neurons of the spinal ganglia, and skeletal muscles.

Tangier Disease

Tangier disease is characterized by the partial or total loss of circulating a-lipoproteins. It is caused by mutations in the ATP-binding cassette 1 (ABC1) gene located on chromosome 9. Cholesterol accumulates in bone marrow, lymph nodes, liver, and spleen. Patients present with large, orange-red tonsils and enlarged liver and spleen. Neurologic manifestations are a syringomyelia-like syndrome with loss of pain and temperature sensations, and polyneuropathy.

The pathology consists of myelin degeneration in the peripheral nerves and deposits of lipid droplets in the Schwann cells. The viscera, bone marrow, and lymph nodes show foam cells containing cholesterol esters.

Cerebrotendinous Xanthomatosis

Cerebrotendinous xanthomatosis, an autosomal recessive disorder, is caused by the defective metabolism of sterol. The disease occurs in young adults and manifests with polyneuropathy, cognitive impairment, ataxia, spasticity, and lipid deposition in large tendons. The pathology of neuropathy consists of demyelination, remyelination, and formation of onion bulbs.


Golden, J.A., & Harding, B.N. (2004). Pathology and genetics. Developmental neuropathology ISN. Basel: Neuropath Press.

Lake, B.D. (1990). Metabolic disorders of the central and peripheral nervous system. In N.U. Filipe, B.P. Lake (Eds.), Histochemistry in pathology, 2nd edition. London: Churchill Livingstone.

Lyon, G., Adams, R.D., Kolodny, E.H. (1996). Neurology of hereditary metabolic diseases of children, 2nd edition. New York:


Nyhan, W.L., & Ozand, P.T. (1998). Atlas of metabolic diseases. London: Chapman and Hall Medical.

Rosenberg, R.N., Prusiner, S.B., DiMauro, S., et al. (2003). The molecular and genetic basis of neurologic and psychiatric diseases, 3rd edition. Philadelphia: Butterworth Heinemann.


1. The biochemical abnormalities in gangliosidosis GM2 are:

A. Deficiency of hexosaminidase A

B. Deficiency of hexosaminidase B

C. Deficiency of an activator protein

D. Deficiency of sphingomyelinase

E. Accumulation of sphingomyelin

2. The gene associated with Tay-Sachs disease is best described as:

A. It is the gene of an activator protein.

B. It is the gene of a-subunit of hexosaminidase A (HEXA).

C. It is the gene of a-subunit of hexosamidase B.

D. It maps to chromosome 15.

E. It maps to chromosome 10.


3. GM1 gangliosidosis in infants is best characterized by:

A. Deficiency of ß-galactosidase

B. Dominant inheritance

C. Mutant gene of missing enzyme maps to chromosome 5

D. Facial dysmorphism and hepatomegaly

E. Circulating vacuolated lymphocytes

4. Neuronal lipid storage diseases that manifest with extraneural lipid storage include:

A. Niemann-Pick disease type A and B

B. Gaucher disease

C. Farber disease

D. Fabry disease

E. Niemann-Pick disease type C

5. Neuronal ceroid lipofuscinosis is a disorder of:

A. Peroxisomes

B. Amino acids

C. Mitochondria

D. Lysosomes

E. Copper metabolism

6. Clinical presentation of lipofuscinosis include:

A. Seizures

B. Cerebellar ataxia

C. Myoclonus

D. Facial anomalies

E. Macrocephaly

7. Batten-Vogt-Spielmeyer disease is described as:

A. The juvenile variant of lipofuscinosis

B. Pigmentary retinal degeneration as the ocular abnormality

C. The gene CLN3 maps to chromosome 16

D. Conspicuous hepatosplenomegaly

E. Cherry-red spot of the macula as a common ocular finding

8. Hurler disease is best characterized by the following except:

A. It is a disorder of glycosaminoglycans.

B. It is X-linked inherited.

C. Facial and skeletal anomalies are common.

D. Obstructive hydrocephalus may be present.

E. Heparan sulfate and keratan sulfate are stored in viscera.

9. Pompe disease is best described as:

A. A disease affecting chiefly adults

B. Mucolipids accumulate in the neurons

C. Glycogen accumulates in the neurons and astrocytes only

D. Glycogen accumulates in neurons and muscles

E. Caused by acid maltase deficiency

10. Commonly encountered findings in Zellweger's disease are:

A. Craniofacial dysmorphism

B. Widespread inflammatory myelin degeneration

C. Polymicrogyria

D. Hypotonia, seizures

E. Neuronal storage of sphingolipids

11. Childhood adrenoleukodystrophy is best characterized by:

A. Deficiency of galactocerebrosidase

B. Defective oxidation of very long-chain fatty acids (VLCFA)

C. Autosomal recessive inheritance

D. Metachromasia of myelin breakdown products

E. Perivascular lymphocytic infiltrations in areas of demyelination

12. Metachromatic leukodystrophy is best described as:

A. A disorder of myelin sulfatides

B. It results from deficiency of enzymes arylsulfatase A, B, and C

C. The gene of arylsulfatase A maps to chromosome 22

D. Metachromasia of myelin globules is demonstrated with acidic Cresyl-violet

E. Globoid cells in demyelinated areas are characteristic.

13. Alexander disease is best described as:

A. Associated with mutations in the gene coding for glial fibrillary acidic protein (GFAP)

B. Loss of myelin in hemispheric white matter

C. Presence of Rosenthal fibers

D. Presence of corpora amylacea around blood vessels

E. Spongiform degeneration of cerebral cortex

14. Which of the following best characterize mito-

chondrial diseases?

A. Diseases caused by mutations in mDNA are transmitted maternally.

B. Lactate and pyruvate levels are decreased in CSF.

C. Lactate and pyruvate levels are increased in serum.

D. The muscles display ragged-red fibers.

15. Leigh syndrome is best characterized by:

A. The disease chiefly affects adults.

B. The brunt of pathology is in the cerebral and cerebellar cortex.

C. The brunt of pathology is in the basal ganglia.

D. The disease is associated with mutations in nuclear DNA gene coding for SORF1.

E. The disease is associated with mutations in gene coding for ATPase 6.

16. Which of the following characterize phenylketonuria (PKU)?

A. Deficiency of acid dehydrogenase

B. Deficiency of phenylalanine hydroxylase

C. Diagnosis rests on urine test with 10% ferric chloride

D. Autosomal dominant disorder

E. Calcifications common in the basal ganglia

17. Myoclonic epilepsy or Lafora disease is best characterized by:

A. Ataxia, seizures, mental regression

B. Lewy bodies in substantia nigra

C. Lafora bodies in neuronal cytoplasm

D. Lafora bodies in skeletal muscles

E. Association with mutations in the gene EPM2A on chromosome 6

18. Which of the following characterize Wilson disease?

A. Extrapyramidal movement disorders

B. Increased serum ceruloplasmin

C. Decreased serum ceruloplasmin

D. Increased copper in serum

E. Greenish brown ring in limbus cornea

(Answers are provided in the Appendix.)


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