1. Adrenoleukodystrophy By Nicolette Laird Lorenzo’s Oil

2. Adrenoleukodystrophy facts Also known as Addison-Schilder Disease, Siemerling-Cruetz Feldt Disease, ALD Also known as Addison-Schilder Disease, Siemerling-Cruetz Feldt Disease, ALD Rare disease Rare disease 1 in 20,000 people have disease1 in 20,000 people have disease Leads to brain damage, failure of adrenal glands, death Leads to brain damage, failure of adrenal glands, death Part of leukodystropies group Part of leukodystropies group

3. Symptoms Damages myelin- tissue that insulates nerves and help conduct impulses Damages myelin- tissue that insulates nerves and help conduct impulses Transporter protiens are missing in people with ALD Transporter protiens are missing in people with ALD Long Chain Fatty Acids build up in body Long Chain Fatty Acids build up in body Can damage adrenal glands and brain Can damage adrenal glands and brain

4. Inheritance X-linked disease X-linked disease Abnormal gene located on x- chromosomeAbnormal gene located on x- chromosome Inherited through autosomal recessive inheritance Inherited through autosomal recessive inheritance Gene carrying mutation is located on one of the 1-22 chromosome pairsGene carrying mutation is located on one of the 1-22 chromosome pairs

5. For example: If a female carrier has daughters with an unaffected man, the daughters have a 50% chance of becoming a carrier. If a female carrier has daughters with an unaffected man, the daughters have a 50% chance of becoming a carrier. If a female carrier has sons with an unaffected man, the sons have a 50% chance of developing the disease If a female carrier has sons with an unaffected man, the sons have a 50% chance of developing the disease

6. If both parents are carriers, there is a 50% chance that the children will be carriers, a 25% chance that they will be normal, and a 25% chance that they will have the disease. If both parents are carriers, there is a 50% chance that the children will be carriers, a 25% chance that they will be normal, and a 25% chance that they will have the disease.

7. Three Types of ALD Childhood cerebral form Childhood cerebral form Most common typeMost common type Adult-onset form Adult-onset form Mild forms of ALD found in carriers Mild forms of ALD found in carriers

8. Childhood cerebral form Behavioral changesBehavioral changes Abnormal withdrawal, aggression Abnormal withdrawal, aggression Poor memoryPoor memory Poor school performancePoor school performance Visual lossVisual loss Learning disabilitiesLearning disabilities SeizuresSeizures Poorly articulated speechPoorly articulated speech Difficulty swallowing Deafness Disturbances of gait and coordination Fatigue Intermittent vomiting Increased skin pigmentation Progressive dementia Occurs in ages 4-10 Occurs in ages 4-10 Death usually occurs 1-10 years after onset of symptoms Death usually occurs 1-10 years after onset of symptoms Symptoms

9. Adult Onset-form Progressive stiffness Progressive stiffness Weakness or paralysis of lower limbs Weakness or paralysis of lower limbs ataxia ataxia Occurs in ages 21-35Occurs in ages 21-35 Symptoms

10. Mild forms of ALD Carriers can develop mild forms of ALD Carriers can develop mild forms of ALD Symptoms Progressive stiffnessProgressive stiffness Weakness or paralysis of lower limbsWeakness or paralysis of lower limbs AtaxiaAtaxia Excessive muscle toneExcessive muscle tone Mild peripheral neuropathyMild peripheral neuropathy Urinary problemsUrinary problems

11. Diagnosis Blood levels taken to see if there are elevated very-long chain fatty acids Blood levels taken to see if there are elevated very-long chain fatty acids Chromosome study are taken to see if there is an ABCD1 gene mutation Chromosome study are taken to see if there is an ABCD1 gene mutation MRI taken of brain to show damage to white matter of brain MRI taken of brain to show damage to white matter of brain

12. Treatments Adrenal function tested periodically in patients Adrenal function tested periodically in patients Physical therapy Physical therapy Psycological support Psycological support Special education Special education Lorenzo’s oil (mixture of oleic acid and eruci acid) Lorenzo’s oil (mixture of oleic acid and eruci acid) Can reduce/delay symptoms in boys with ALDCan reduce/delay symptoms in boys with ALD Bone marrow transplants Bone marrow transplants Carries risk of deathCarries risk of death Oral administered docosa hexanoic acid (DHA) in infants with neonatal ALD Oral administered docosa hexanoic acid (DHA) in infants with neonatal ALD

13. Research Gene therapy- temporarily removing appropriate cells from patient, inserting corrected genetic sequence Gene therapy- temporarily removing appropriate cells from patient, inserting corrected genetic sequence Disease process will stop or reverse and begin to make needed enzymesDisease process will stop or reverse and begin to make needed enzymes Myelin Restoration Myelin Restoration

14. Lorenzo Odone Borne May 29, 1978 to Michaela and Augusto Odone Borne May 29, 1978 to Michaela and Augusto Odone Was diagnosed with ALD at age 6 Was diagnosed with ALD at age 6 Was unable to hear, move, see, or swallow Was unable to hear, move, see, or swallow Parents would not let him die Parents would not let him die Researched ALDResearched ALD Came up with Lorenzo’s oil and helped save his lifeCame up with Lorenzo’s oil and helped save his life Parents must attend Lorenzo 24/7 Parents must attend Lorenzo 24/7 Parents stopped going to parties or doing anything to care for son Parents stopped going to parties or doing anything to care for son Died One day after his 30 th birthday Died One day after his 30 th birthday

15. Support groups http://www.aldfoundation.org/ http://www.aldfoundation.org/ http://www.aldfoundation.org/ http://www.alds.org.au/ald.htm http://www.alds.org.au/ald.htm http://www.alds.org.au/ald.htm http://www.lifeknowledgepark.org.uk /projects/patientsupport/supportgrou p.php http://www.lifeknowledgepark.org.uk /projects/patientsupport/supportgrou p.php http://www.lifeknowledgepark.org.uk /projects/patientsupport/supportgrou p.php http://www.lifeknowledgepark.org.uk /projects/patientsupport/supportgrou p.php

16. Bibliography http://www.healthsystem.virginia.edu/urahealth/hub_cancer/ari.cf m http://www.healthsystem.virginia.edu/urahealth/hub_cancer/ari.cf m http://www.healthsystem.virginia.edu/urahealth/hub_cancer/ari.cf m http://www.healthsystem.virginia.edu/urahealth/hub_cancer/ari.cf m http://www.ninds.nih.gov/disorde rs/adrenoleukodystrophy/adrenol eukodystrophy.htm http://www.ninds.nih.gov/disorde rs/adrenoleukodystrophy/adrenol eukodystrophy.htm http://www.ninds.nih.gov/disorde rs/adrenoleukodystrophy/adrenol eukodystrophy.htm http://www.ninds.nih.gov/disorde rs/adrenoleukodystrophy/adrenol eukodystrophy.htm http://www.umm.edu/ency/articl e/001182.htm http://www.umm.edu/ency/articl e/001182.htm http://www.umm.edu/ency/articl e/001182.htm http://www.umm.edu/ency/articl e/001182.htm http://www.nlm.nih.gov/MEDLINE PLUS/ency/article/001182.htm http://www.nlm.nih.gov/MEDLINE PLUS/ency/article/001182.htm http://www.nlm.nih.gov/MEDLINE PLUS/ency/article/001182.htm http://www.nlm.nih.gov/MEDLINE PLUS/ency/article/001182.htm http://www.stopald.ord/watisals/ asp http://www.stopald.ord/watisals/ asp http://www.stopald.ord/watisals/ asp http://www.stopald.ord/watisals/ asp http://i.dailymail.co.uk/i/pix/2008 /06/01/article-0- 003D583400000258- 790_468x665.jpg http://i.dailymail.co.uk/i/pix/2008 /06/01/article-0- 003D583400000258- 790_468x665.jpg http://i.dailymail.co.uk/i/pix/2008 /06/01/article-0- 003D583400000258- 790_468x665.jpg http://i.dailymail.co.uk/i/pix/2008 /06/01/article-0- 003D583400000258- 790_468x665.jpg http://www.sjsu.edu/faculty/gers tman/StatPrimer/autorecessive.jp g http://www.sjsu.edu/faculty/gers tman/StatPrimer/autorecessive.jp g http://www.sjsu.edu/faculty/gers tman/StatPrimer/autorecessive.jp g http://www.sjsu.edu/faculty/gers tman/StatPrimer/autorecessive.jp g http://www.ulf.org/types/xALD/ht ml http://www.ulf.org/types/xALD/ht ml http://www.ulf.org/types/xALD/ht ml http://www.ulf.org/types/xALD/ht ml http://www.thisislondon.co.uk/sh owbiz/article-23489187- details/His+parents%27+battle+t o+save+him+inspired+the+film+ Lorenzo%27s+Oil.+Now+Lorenzo +Odone%27s+sister+writes+mo vingly+of+a+life+that+taught+h er+the+meaning+of+hope.../arti cle.do http://www.thisislondon.co.uk/sh owbiz/article-23489187- details/His+parents%27+battle+t o+save+him+inspired+the+film+ Lorenzo%27s+Oil.+Now+Lorenzo +Odone%27s+sister+writes+mo vingly+of+a+life+that+taught+h er+the+meaning+of+hope.../arti cle.do http://www.thisislondon.co.uk/sh owbiz/article-23489187- details/His+parents%27+battle+t o+save+him+inspired+the+film+ Lorenzo%27s+Oil.+Now+Lorenzo +Odone%27s+sister+writes+mo vingly+of+a+life+that+taught+h er+the+meaning+of+hope.../arti cle.do http://www.thisislondon.co.uk/sh owbiz/article-23489187- details/His+parents%27+battle+t o+save+him+inspired+the+film+ Lorenzo%27s+Oil.+Now+Lorenzo +Odone%27s+sister+writes+mo vingly+of+a+life+that+taught+h er+the+meaning+of+hope.../arti cle.do http://rarediseases.about.com/od /myelindisorders/p/lorenzoodone. htm http://rarediseases.about.com/od /myelindisorders/p/lorenzoodone. htm http://rarediseases.about.com/od /myelindisorders/p/lorenzoodone. htm http://rarediseases.about.com/od /myelindisorders/p/lorenzoodone. htm http://www.26noticias.com.ar/adj untos/imagen/85178.jpg http://www.26noticias.com.ar/adj untos/imagen/85178.jpg http://www.26noticias.com.ar/adj untos/imagen/85178.jpg http://www.26noticias.com.ar/adj untos/imagen/85178.jpg http://ghr.nlm.nih.gov/handbook/ illustrations/xlinkrecessivemother.jpg http://ghr.nlm.nih.gov/handbook/ illustrations/xlinkrecessivemother.jpg

17. The End