TheThe NervousNervous SystemSystem

AtaxiaAtaxiaAndAnd

NarcolepsyNarcolepsy

AtaxiaAtaxia Lack of muscle coordinationLack of muscle coordination

• A- “no”A- “no”• -taxia “muscle coordination”-taxia “muscle coordination”• From Greek: “lack of order”From Greek: “lack of order”

• A neurological sign and A neurological sign and symptom consisting of gross symptom consisting of gross lack of coordination of lack of coordination of muscle movementsmuscle movements

• A non-specific clinical A non-specific clinical manifestation implying manifestation implying dysfunction of parts of the dysfunction of parts of the nervous system that nervous system that coordinate movement coordinate movement • The cerebellum The cerebellum

SymptomsSymptoms

staggered gait staggered gait problems with problems with

balancebalance poor limb control poor limb control slurred speech slurred speech choking problems choking problems irregular eye irregular eye

movementsmovements• nystagmusnystagmus

loss of reflexes loss of reflexes From the New York Times, performers in "AtaXia," a dance inspired by the neurological disorder. In the performance, the dancers movements become tentative and isolated. Dancers sink to the floor. Eventually their movements seem “torn asunder”, body parts spasmodically jerking in different directions. The dancers end up helplessly clumped and collapsed

Friedreich’s AtaxiaFriedreich’s Ataxia The most commonly The most commonly

inherited spinocerebellar inherited spinocerebellar ataxia named for Nicholaus ataxia named for Nicholaus Friedreich a German Friedreich a German physician that first physician that first described the disease in described the disease in the 1860’sthe 1860’s

An inherited disease that An inherited disease that causes progressive causes progressive damage to the nervous damage to the nervous systemsystem

An autosomal recessive An autosomal recessive congenital ataxia that is congenital ataxia that is caused by a mutation in caused by a mutation in gene FXN that codes for gene FXN that codes for frataxin, located on frataxin, located on chromosome 9 chromosome 9

SignsSigns Cerebellar: Cerebellar:

• Nystagmus, Nystagmus, • Truncal titubation Truncal titubation • DysarthriaDysarthria• DysmetriaDysmetria

Pyramidal: Pyramidal: • Absent deep tendon reflexes Absent deep tendon reflexes • No extensor plantar responsesNo extensor plantar responses• Distal weakness Distal weakness

Dorsal column: Dorsal column: • Loss of vibratory and proprioceptive sensation Loss of vibratory and proprioceptive sensation

Cardiac involvement occurs in 91% of patientsCardiac involvement occurs in 91% of patients• Cardiomegaly Cardiomegaly • Symmetrical hypertrophySymmetrical hypertrophy• Murmurs Murmurs • Conduction defectsConduction defects

Median age of death is 35 yearsMedian age of death is 35 years 20% of cases are found in association with diabetes mellitus type 20% of cases are found in association with diabetes mellitus type

1 or 2 or pancreatic beta cell dysfunction1 or 2 or pancreatic beta cell dysfunction

SymptomsSymptoms Symptoms typically begin between the ages of 5 Symptoms typically begin between the ages of 5

to 15 yearsto 15 years Late onset FA may occur in the 20s or 30s Late onset FA may occur in the 20s or 30s Muscle weakness in the arms and legs Muscle weakness in the arms and legs Loss of coordination Loss of coordination Vision impairment Vision impairment Hearing loss Hearing loss Slurred speech Slurred speech Scoliosis Scoliosis High plantar archesHigh plantar arches Diabetes Diabetes Heart disorders Heart disorders

TTxx

Currently no cureCurrently no cure Treatment Treatment

approved in Canada approved in Canada called called idebenoneidebenone

Symptoms and Symptoms and accompanying accompanying complications can complications can be treated to help be treated to help patients maintain patients maintain optimal functioning optimal functioning as long as possible as long as possible

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Did Honest Abe Have ataxia?Did Honest Abe Have ataxia?

University of Minnesota scientists say they've found evidence President Abraham Lincoln may have been a victim of ataxia.

NarcolepsyNarcolepsy

Narc/o “stupor”Narc/o “stupor” -lepsy “seizure”-lepsy “seizure” A chronic A chronic

neurological neurological disorder disrupting disorder disrupting the sleep-wake the sleep-wake cyclecycle

Extreme Extreme uncontrollable uncontrollable desire to sleep desire to sleep

SymptomsSymptoms

EDSEDS• Excessive daytime Excessive daytime

sleepinesssleepiness CataplexyCataplexy

• Sudden loss of Sudden loss of voluntary muscle tonevoluntary muscle tone

Vivid hallucinationsVivid hallucinations• During sleep or upon During sleep or upon

wakingwaking Total paralysisTotal paralysis

• Briefly at the beginning Briefly at the beginning or end of an episodeor end of an episode

CausesCauses

No known causeNo known cause Strong link to genetic conditionsStrong link to genetic conditions

• area of Chromosome 6 known as the area of Chromosome 6 known as the HLA complex HLA complex

• Niemann-Pick diseaseNiemann-Pick disease• Prader-Willi syndromePrader-Willi syndrome

May represent linkage disequillibriumMay represent linkage disequillibrium

TTxx

No known cureNo known cure Central nervous system stimulants used to treat Central nervous system stimulants used to treat

EDS:EDS:• MethylphenidateMethylphenidate• racemic – amphetamineracemic – amphetamine• dextroamphetamine and methamphetaminedextroamphetamine and methamphetamine• modafinil modafinil

new stimulant with a different pharmacologic mechanism new stimulant with a different pharmacologic mechanism Gamma-hydroxybutyrate (GHB)Gamma-hydroxybutyrate (GHB)

• FDA approved drug for cataplexyFDA approved drug for cataplexy Planned, regular short naps can reduce the need Planned, regular short naps can reduce the need

for pharmacological treatment for pharmacological treatment

Don’t fall asleep yet…Don’t fall asleep yet… It is estimated that as many It is estimated that as many

as 3 million people worldwide as 3 million people worldwide are affected by narcolepsyare affected by narcolepsy

In the United States, it is In the United States, it is estimated that this condition estimated that this condition afflicts as many as 200,000 afflicts as many as 200,000 AmericansAmericans

Fewer than 50,000 are Fewer than 50,000 are diagnosed diagnosed

Depictions of the disorder Depictions of the disorder vary in accuracy in pop vary in accuracy in pop cultureculture

People with narcolepsy are People with narcolepsy are often unfairly judged as often unfairly judged as lazy, unintelligent, lazy, unintelligent, undisciplined, or undisciplined, or unmotivated unmotivated • Groups like Narcolepsy Groups like Narcolepsy

Network can help!Network can help!

Resources CitedResources Cited

www.ataxia.orgwww.ataxia.org www.dinf.ne.jpwww.dinf.ne.jp www.myweb.tiscali.co.ukwww.myweb.tiscali.co.uk www.narcolepsynetwork.orgwww.narcolepsynetwork.org www.ninds.nih.govwww.ninds.nih.gov www.nytimes.comwww.nytimes.com www.wikipedia.orgwww.wikipedia.org