18 Questions
Which disease is characterized by gait ataxia, hand clumsiness, dysarthria, pes cavus, and kyphoscoliosis, with high incidence of cardiac disease and diabetes?
Friedreich ataxia
In which of the following diseases does cognitive changes such as memory disturbances, behavior, and language issues lead to dementia and may manifest as Alzheimer's disease or frontotemporal dementia?
Friedreich ataxia
Which disease affects the cerebellar cortex, spinal cord, and other brain regions variably, leading to ataxia?
Spinocerebellar ataxia
Which disease is characterized by difficulty swallowing, respiratory issues, and muscle weakness due to involvement of the motor system?
Amyotrophic lateral sclerosis (ALS)
Which genetic abnormality involving GAA trinucleotide repeat expansion is associated with Frataxin protein and regulation of mitochondrial iron?
Friedreich ataxia
What disease is caused by CAG repeat expansions and involves intranuclear inclusions, among other mutations?
Huntington disease
What is the primary cause of mitochondrial dysfunction in Friedreich's ataxia?
Decreased frataxin expression
Which of the following is a characteristic feature of amyotrophic lateral sclerosis (ALS)?
All of the above
Which gene mutation is most commonly associated with familial forms of amyotrophic lateral sclerosis (ALS)?
SOD1
Which of the following is a characteristic feature of Friedreich's ataxia?
All of the above
Which of the following is a common feature of both amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD)?
All of the above
Which of the following is a characteristic feature of ataxia telangiectasia?
All of the above
Which of the following is a characteristic feature of amyotrophic lateral sclerosis (ALS)?
Loss of anterior horn neurons and reactive gliosis
Which of the following ataxias is associated with a deficiency in frataxin protein?
Friedreich ataxia
In amyotrophic lateral sclerosis (ALS), which of the following is typically spared?
Extraocular muscles
Which of the following is a characteristic feature of ataxia telangiectasia?
Deficiency in the ATM protein
Which of the following is a common cause of cerebellar ataxia due to thiamine deficiency?
Chronic alcoholism
In spinocerebellar ataxias, which of the following is commonly observed?
Degeneration of the spinocerebellar tracts
Test your knowledge about neurodegenerative disorders characterized by gait ataxia, hand clumsiness, dysarthria, pes cavus, kyphoscoliosis, cognitive changes, and dementia. Explore conditions such as Alzheimer's disease, Frontotemporal dementia, and Pick's disease.
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