Robbins Neurodegenerative Diseases Flashcards
What is the clinical pattern seen in Alzheimer Disease (AD)
Dementia
What are the inclusions seen in Alzheimer Disease (AD)
- Tau tangles
- AB plaques
What are the genetic causes of Alzheimer Disease (AD)
APP
PS1 and PS2
What are the clinical patterns in Frontaltemporal lobar degeneration (FTLD)
Behavioral changes, language disturbances
What are the clinical patterns in Parkinson disease (PD)
Hypokenetic movement disorders
What is the inclusion in Frontaltemporal lobar degeneration (FTLD
Tau
TDP-43
FUS
What are the genetic causes for TDP-43 accumulation in Frontaltemporal lobar degeneration (FTLD)
- TDP-43
- progranulin
- C9orf72
What are the occlusion seen in Parkinson Disease (PD)
Alpha-synuclein
Tau
What is the genetic cause of tau accumulation in Parkinson Disease (PD)
LRRK2
What is the clinical presentation of progressive supranuclear palsy (PSP)
Parkinsonism with abnormal eye movement
What are the inclusions in progressive supranuclear palsy (PSP)
Tau
What is the clinical presention of Corticalbasal degeneration (CBD)
Parkinsonism with asymmetric movement disorder
What are the inclusions in corticobasal degeneration (CBD)
Tau
What are the clinical presentations of Multiple system atrophy (MSA)
Parkinsonism, cerebellar ataxia, autonomic failure
What are the inclusions in multiple system atrophy
Alpha-synculein
What are the clinical presentations of Huntington disease (HD)
Hyperkinetic movement disorder
What are the inclusions in Huntington disease
Huntingtin aka poly glut
What is the genetic cause of Huntington in Huntington disease (HD)
Htt
What are the clinical presentations of spinocerebellar ataxias
Cerebellar ataxia
What are the inclusions in spinocerebellar ataxias
Various proteins containing Poly-glut
What are the genetic causes of inclusions in cerebellar ataxias
Multiple loci
What are the clinical presentations of amyotrophic lateral sclerosis
Weakness with upper and lower motor neuron signs
What are the inclusions in amyotrophic lateral sclerosis (ALS)
SOD1
TDP-43
FUS
What are the clinical presentations of spinal bulbar muscular atrophy (SBMA)
Lower motor neuron weakness, diminished androgen
What are the inclusions in spinal bulbar muscular atrophy (SBMA)
androgen receptor containing Poly glut