Chorea Huntington
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Chorea Huntington Morbus Huntington Juv. form: Westphal variant PowerPoint PPT Presentation


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Chorea Huntington Morbus Huntington Juv. form: Westphal variant 1872 described by George Huntington Frequency/prevalence 0,6 %o in white people less in black people Equally in males and females 3000 – 8000 in Germany. Symptoms Motor: Hyperkinetic hypoton uncontrolled movements,

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Chorea Huntington Morbus Huntington Juv. form: Westphal variant

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Chorea huntington morbus huntington juv form westphal variant

Chorea Huntington

Morbus Huntington

Juv. form: Westphal variant

1872 described by George Huntington

Frequency/prevalence

0,6 %o in white people

less in black people

Equally in males and females

3000 – 8000 in Germany


Chorea huntington morbus huntington juv form westphal variant

Symptoms

Motor:

Hyperkinetic hypoton

uncontrolled movements,

distally accentuated

like in a confused or embarrassed state

Dancing like movements (Veitstanz)

grimacing

Tongue, speech, swallowing

Mental:

Schizophrenia-like psychotic symptoms

Dementia


Chorea huntington morbus huntington juv form westphal variant

Time course

Occurence: Beyond the age of 30 - 50 years

after the reproductive phase

Irrestable progressive

Leading to death after 5- 20 years


Chorea huntington morbus huntington juv form westphal variant

Cause

A dominant gene with 100% penetrance

Inheritance: Autosomal dominant

No sex differences

1 parent bears the gene: 50 % of the children will fall ill

1983 HD locus on the short arm of chromosome 4

1995 HD a polyglutamine disease: Protein Huntingtin

enhanced CAG repeat frequency

CAG triplett repeat normal: 11 -34

in HD 37 – 86

correlation between repeat frequency and

onset of the diesease


Chorea huntington morbus huntington juv form westphal variant

Morphology

A disease of the basal ganglia / striatum

In HD the spiny I neurons of the striatum degenerate

(GABAergic, ENKergic)

Predominantly:

the neurons giving rise to the indirect pathway

Neurochemistry

GABAergic projection to the GPe


Chorea huntington morbus huntington juv form westphal variant

The neurons of the indirect pathway (ENK/GABA)

In the striatum not affected:

Aspiny neurons

Somatostatin containing neurons

NP-Y neurons

NADPH-Diaphorase/NO-Synthase containing neurons


Chorea huntington morbus huntington juv form westphal variant

CORTEX

GLU

GLU

GLU

GABA

GABA

THAL

STRIATUM

ACH

SNr

D1(+)

GPi

GPe

D2(-)

GABA

GABA

GABA

DA

GABA

GABA

GLU

SNc

STN

GLU

DA


Chorea huntington morbus huntington juv form westphal variant

Therapy

No causal therapy available

GABA agonism is too unselective

Unspecific therapy:

Sedative drugs

neuroleptics


Chorea huntington morbus huntington juv form westphal variant

Animal models

Destruction of striatal spiny neurons

Sparing interneurons containing:

Somatostatin

Neuropeptid Y

NADPH-diapohrase/NO synthase positive neurons

Tools: Excitotoxin Quinolinic acid

Transgenic animals


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