Progressive bulbar palsy

Disease class: Motor neuron disease

Ataxia telangiectasia

Disease class: Immunologic deficiency syndromes

Disease class: Neurocutaneous syndromes

α-Synucleinopathies

Disease class: Neurodegenerative diseases

Types 

• Dementia with Lewy bodies
• Multiple system atrophy
• Parkinson disease

 

Pathophysiology  

• A Lewy body is a aggregate of alpha-synuclein protein.
• There is a pathological finding of Lewy bodies in neurons.
• There is a pathological finding of abnormal neurites called Lewy neurites.

Dementia with Lewy bodies

Disease class: α-Synucleinopathies

Disease class: Dementia

Disease class: Neurodegenerative diseases 

Disease class: Parkinsonian disorders

Also known as

DLB, Lewy body disease

 

Pathophysiology

DLB is an alpha-synucleinopathy.

 

Epidemiology

• This is the third most common cause of dementia. 

Differential diagnosis

This is a Parkinson-plus syndrome.

Tauopathies

Neurodegenerative diseases

Types

• Alzheimer disease
• Diffuse neurofibrillary tangles with calcification
• supranuclear palsy, Progressive

 

Pathophysiology 

• Tau proteins (τ proteins) have the function of stabilising microtubules. They are produced in abundance within neurons of the central nervous system.
• These diseases share the pathological finding of Tau protein tangles.

Motor neuron disease

Disease class: Neurodegenerative diseases
Disease class: Neuromuscular diseases 

Types

• Amyotrophic lateral sclerosis
• bulbar palsy, Progressive
• muscular atrophy, Spinal

TDP-43 proteinopathies

Disease class: Neurodegenerative diseases
Disease class: Proteostasis deficiencies

Types

• Amyotrophic lateral sclerosis 
• Frontotemporal lobar degeneration 

 

Pathophysiology 

• TAR DNA-binding protein 43 is a transactive response (TAR) protein. It is also known as TDP-43.
• These diseases share the pathological finding of TDP-43 protein tangles.

Wernicke encephalopathy

Disease class: brain diseases, Metabolic 

 

Also known as 

• WE 
• Wernicke's disease

When WE occurs with Korsakoff syndrome the diagnosis is Wernicke-Korsakoff syndrome.

 

Pathophysiology

It is caused by vitamin B1 (thiamine) deficiency.

 

Symptoms

• Unsteady gait 
• Blurred vision
• Confusion

 

Signs

• Ophthalmoplegia
• Ataxia

 

Risk factors

• Chronic alcohol misuse
• Poverty
• Psychiatric disorders

Subacute Combined Degeneration

Disease class: Demyelinating diseases 
Disease class: Nervous system paraneoplastic syndromes 

Disease class: Spinal cord diseases

This is a degeneration of the spinal cord.

 

Causes

• Paraneoplastic syndrome
• Vitamin B12 deficiency

Fatal familial insomnia

Disease class: Prion diseases

Disease class: Sleep initiation and maintenance disorders

Also known as 

• FFI

This is an inherited prion disease, caused by a mutation to the protein PrPC.

 

Pathophysiology

• Progressive insomnia
• Worsening sleep deprivation
• Dementia

 

Prognosis

• The progression of this disease is irreversible and ultimately fatal.