Dit document omvat mijn samenvatting (info slides + notities) van Les 1 van het vak Neurogenetics gegeven door Rosa Rademakers. Ik heb dit voor elke les, buiten les 10. Daarvan heb ik wel notities bij de slides. Je mag me hiervoor ook altijd contacteren :))
Class 1
General information
- The first 5 classes are concepts, important ideas
- The last 5 classes are about applying these concepts to diseases
- Inheritance patterns, tools to find genes and the type of genetic variants
- Basis how to find genes in neurological diseases
- Written exam: MCQs and open questions
- Neurological disorders are a major health problem
o Huge growing problem
Classification of neurological disorders
- >200 neurological disorders have been described
- Many classification systems exist e.g. based on clinical presentation, primary
aLected cell type or brain region, temporal expression -> some diseases are part
of multiple categories!
- Not easy to think about a classification system -> diLerent ways of classification
- One particular classification in these slide and we are going to follow this
classification
Movement disorders Neurodevelopmental disorders
Dementias Major adult psychiatric disorders
Diseases of white matter Neurocutaneous disorders
Neuromuscular disorders Cerebrovascular disorder
Paraxysmal disorders
Movement disorders
- Cerebellar ataxias, Parkinson disease (PD), Essential Tremor, Inherited dystonias,
Huntington’s Disease (HD), Wilson Disease , Primary familial brain calcifications
- The one we know best is Parkison disease
- Yellow = complete class about this diseases
- Cerebellum aLected
o Too slow movement: hypokinetic disorders
o Too fast movement: hyperkinetic disorders
- Video: ataxia
o Group of neurological conditions that gradually destroys the cerebellum and
aLects your ability to control movement and send signals throughout your
nervous system
o Less likely to have control over their legs and movement
o DiLerent types
§ Friedreich most common
§ Over 200 types of ataxia have been discovered
o Each person is aLected in their own way
, o Children of the age of 2 can be diagnosed but also adults
o Some genetic and other through circumstances
o DiLerent symptoms
o No cures for ataxia -> progressive condition
o Diagnose very diLicult
Dementias
- Alzheimer disease (AD), Frontotemporal dementia (FTD), Dementia with Lewy
bodies (DLB), Prion disease
- Video: late-onset Alzheimer
o Moving video of a old lady which has late onset Alzheimer disease but her
musical memory stay preserved
o Not every part of the brain is evenly eLected
Diseases of white matter
- Dysmyelinating = primary abnormality of myelin formation
- Demyelinating = secondary destruction of normal myelin
- Adult onset heritable white matter disorders
- Alexander disease, Pelizaeus Merzbacher disease, Multiple sclerosis (=
demyelinating disease)
- Video: MS
o Very diLerent for everyone
o She has spasmodic dysphonia
o Diagnosis takes a very long time
Neuromuscular disorders
- Facioscapulohumeral muscular dystrophy (FSHD), Congenital myopathies, Spinal
muscular atrophy (SMA), Amyotrophic lateral sclerosis (ALS, Spinal and bulbar
muscular atrophy (SBMA), Hereditary spastic paraplegia (HSP), Neuropathy,
Duchenne muscular dystrophy
- Large group of diseases that aLect the motoneurons (upper and lower) also the
neuromuscular junction
- Sometimes it is diLicult when you have a problem with the muscles if it is a primary
defect of the muscle or whether it is the spinal cord that is not giving the correct
information and that the muscles are degenerating
- Video: amyotrophic lateral sclerosis
o Deadly or severe debilitating disease that aLects the motoneurons
o Gradually loss of diLerent functions -> people become more dependent
Paraxysmal disorders
- Disorders that occur unexpectedly in episodes
- Epilepsy, Migraine, Periodic paralysis, Episodic ataxias, Disorders of sleep and
circadian rhythms
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