Podcast
Questions and Answers
What is a characteristic early sign of lateral corticospinal tract degeneration?
What is a characteristic early sign of lateral corticospinal tract degeneration?
Which mutation is associated with some familial cases of lateral corticospinal tract degeneration?
Which mutation is associated with some familial cases of lateral corticospinal tract degeneration?
What is the primary cause of Friedreich Ataxia?
What is the primary cause of Friedreich Ataxia?
What early symptoms characterize the degeneration of the cerebellum in Friedreich Ataxia?
What early symptoms characterize the degeneration of the cerebellum in Friedreich Ataxia?
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Which condition is associated with hypertrophic cardiomyopathy?
Which condition is associated with hypertrophic cardiomyopathy?
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What type of sensory loss is typically associated with syringomyelia at the C8-T1 region?
What type of sensory loss is typically associated with syringomyelia at the C8-T1 region?
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Which of the following conditions is characterized by death within a few years after birth due to anterior motor horn degeneration?
Which of the following conditions is characterized by death within a few years after birth due to anterior motor horn degeneration?
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What specific syndrome can occur due to syrinx expansion in syringomyelia?
What specific syndrome can occur due to syrinx expansion in syringomyelia?
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What is the primary effect of poliovirus infection on the spinal cord?
What is the primary effect of poliovirus infection on the spinal cord?
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Which statement best describes the presentation of Amyotrophic Lateral Sclerosis (ALS)?
Which statement best describes the presentation of Amyotrophic Lateral Sclerosis (ALS)?
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Study Notes
FRIEDREICH ATAXIA
- Degenerative disorder of the cerebellum and spinal cord
- Degeneration of the cerebellum leads to ataxia
- Degeneration of multiple spinal cord tracts leads to loss of vibratory sense and proprioception, muscle weakness in the lower extremities, and loss of deep tendon reflexes.
- Autosomal recessive; due to expansion of an unstable trinucleotide repeat (GAA) in the frataxin gene
- Frataxin is essential for mitochondrial iron regulation; loss results in iron buildup with free radical damage.
- Presents in early childhood; patients are wheelchair bound within a few years.
- Associated with hypertrophic cardiomyopathy
LATERAL CORTICOSPINAL TRACT DEGENERATION
- Leads to upper motor neuron signs—spastic paralysis with hyperreflexia, increased muscle tone, and positive Babinski sign.
- Atrophy and weakness of hands is an early sign.
- Lack of sensory impairment distinguishes ALS from syringomyelia.
- Most cases are sporadic, arising in middle age adults.
- Zinc-copper superoxide dismutase mutation (SOD1) is present in some familial cases; leads to free radical injury in neurons.
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Description
Explore the characteristics and clinical features of Friedreich Ataxia alongside the degeneration of the lateral corticospinal tract. Understand the implications of these disorders, including their genetic basis and presentation in affected individuals. This quiz will deepen your understanding of neurological conditions and their symptoms.
