Extensive summary of the course Neurogenetics (2nd Master Biomedical Sciences - Neurosciences)
- Examples
- What to know for the exam
- Illustrative pictures
- Written + oral part
- Open questions
- Terms to explain
- Linking things
1. INTRODUCTION
➢ Broad classification of neurological diseases (with example)
➢ How to identify a (neuro)genetic disorder?
➢ Understanding of inheritance patterns and knowledge on key factors influencing them
➢ Concepts of gene identification: linkage versus genome-wide association studies
➢ Understanding of contribution of common and rare variants to neurological diseases
➢ Overview of types of disease-causing genetic variation (coding and non-coding mutations)
What are neurological disorders and how many people are affected by them?
1.1. CLASSIFICATION OF NEUROLOGICAL DISORDERS
• > 200 neurological disorders have been described
• Many classification systems exist e.g. based in clinical presentation, primary affected cell
type/ brain region temporal expression, …
o Some diseases are part of multiple categories!!
1) Movement Disorders 6) Neurodevelopmental Disorders
2) Dementias 7) Major Adult Psychiatric Disorders
3) Diseases of WM 8) Neurocutaneous Disorders
4) Neuromuscular Disorders 9) Cerebrovascular Diseases
5) Paroxysmal Disorders
• Cerebellum is affected
• Hypokinetic disorders (slowness of movement) vs. Hyperkinetic disorders (excessive involuntary
movement
• Ataxia
o = umbrella term for a group of neurological conditions that gradually destroy your
cerebellum and affects your ability to control movement and send signals throughout
your nervous system
o Takes often a long term to be diagnosed
o Different types of ataxias (Friedreich’s, AOA2, gluten ataxia…)
o 2y-…y can be affected
o Genetic vs. acquired
o Progressive
• Signs of dementia
o Problems communicating
o Confusion of time and place
o Changes in mood or behavior
o Changes in personality
o Difficulty with simple tasks
o Problems with language
o Misplacing things
o Day-to-day forgetfulness
o Misplacing things
o Poor or decreased judgement
• Musical memory is preserved in patients with AD → SO not all regions are equally affected
2
,Diseases of White Matter
• Dysmyelinating= primary abnormality of myelin formation (Nieman Picks disease)
• Demyelinating = secondary destruction of normal myelin (MS)
- Adult onset heritable white matter disorders
- Alexander disease
- Pelizaeus Merzbacher disease
- Multiple sclerosis (demyelinating disease)
o Snowflake disease= it’s different for everyone
• Affects upper and lower motor neurons and NMJ
• Often results in muscular diseases
• Cause: spinal cord doesn’t transmit signals anymore OR primary problem in muscles?
Paroxysmal disorders
- Epilepsy
- Migraine
- Periodic paralysis
- Episodic ataxias
- Disorders of sleep and circadian rhythm
• = disorders that occur unexpectedly
in episodes
(some may also fit in other categories)
3
, Neurodevelopmental disorders
- Autism spectrum disorder
- Cerebral palsy
- Tourette disorder and other tic disorders
- Sex chromosome aneuploidies
- Fragile X syndrome and fragile X associated tremor ataxia syndrome
Neurocutaneous disorders (phakomatoses)
- Neurofribromatosis type 1 (NF1)
- Tuberous sclerosis complex (TSC)
o Affects children
o They miss a gene that prevents tumors from growing in the body
- Von Hippel Lindau disease and sturge Weber syndrome
• Benign tumors in the brain that lead to for example epilepsy
Cerebrovascular Diseases
- Cerebrovascular autosomal-dominant arteriopathy with subcortical infarcts and
leukoencephalopathy (CADASIL)
Unifying themes in Neurological disorders
→ Often multiple disease subtypes
→ Multiple presentations of the disease even within a family
→ Challenging to obtain diagnoses
→ Progressive disease without a cure
→ Patients are extremely motivated to participate in research
1.2. GENETIC FACTORS
FACTORS SUGGESTING A NEUROGENETIC DISORDER
• A positive family history of the same/ similar neurological disorder
• A constellation of signs and symptoms suggesting a known genetic syndrome
• Subtle onset with chronic, progressive clinical course
• Consanguinity
• Increased frequency in a specific ethnic group
4
Les avantages d'acheter des résumés chez Stuvia:
Qualité garantie par les avis des clients
Les clients de Stuvia ont évalués plus de 700 000 résumés. C'est comme ça que vous savez que vous achetez les meilleurs documents.
L’achat facile et rapide
Vous pouvez payer rapidement avec iDeal, carte de crédit ou Stuvia-crédit pour les résumés. Il n'y a pas d'adhésion nécessaire.
Focus sur l’essentiel
Vos camarades écrivent eux-mêmes les notes d’étude, c’est pourquoi les documents sont toujours fiables et à jour. Cela garantit que vous arrivez rapidement au coeur du matériel.
Foire aux questions
Qu'est-ce que j'obtiens en achetant ce document ?
Vous obtenez un PDF, disponible immédiatement après votre achat. Le document acheté est accessible à tout moment, n'importe où et indéfiniment via votre profil.
Garantie de remboursement : comment ça marche ?
Notre garantie de satisfaction garantit que vous trouverez toujours un document d'étude qui vous convient. Vous remplissez un formulaire et notre équipe du service client s'occupe du reste.
Auprès de qui est-ce que j'achète ce résumé ?
Stuvia est une place de marché. Alors, vous n'achetez donc pas ce document chez nous, mais auprès du vendeur Katriendc. Stuvia facilite les paiements au vendeur.
Est-ce que j'aurai un abonnement?
Non, vous n'achetez ce résumé que pour €7,39. Vous n'êtes lié à rien après votre achat.
