Caso Clínico (perguntas específicas) Flashcards
What information do you think is related to the neurological degenerative disease and what information is unrelated to the disease?
Related:
- Poor balance and portural control
- Unsteady walking pattern
- Speech problem, such as slurred or slow speech
- Tremors
- Eye movement abnormalities
Unrelated:
- Muscle weakness and atrophy
What symptoms support the diagnosis of spinocerebellar ataxia? What symptons do not?
Support:
- Poor balance and portural control
- Unsteady walking pattern
- Speech problem, such as slurred or slow speech
- Tremors
- Eye movement abnormalities
Do not support:
- Muscle weakness and atrophy
What alternatives could explain some or all of the symptoms?
Another type of ataxia
What information do you think is related to the neurological degenerative disease and what information is not?
Related:
- Cerebellar aprophy
- Loss of Purkinje cells and other neuronal cells
- Brainstem abnormalities
- Degenertion of the spinal cord
- Changes in the white matter
- Neuronal degeneration in the striatum and substantia nigra
Which (if any) of the described pathologies support a diagnosis of a Spinocerebellar ataxia? Which (if any) negate this diagnosis?
Support:
- Cerebellar atrophy
- Loss of Purkinje cells
What alternatives could explain some or all of the pathologies? Can you eliminate any of the alternatives that were possible based on previous information?
Which staining’s and histological analyses would be valuable to study neuropathological findings in the brain?
- Silver-staining methods
- Genetic test for Machado-Joseph disease (SCA3)
Which antibody pathologists used to confirm the SCA3 diagnosis?
Antibody against ataxin-3
All Patient X sons will have SCA3?
Yes, as long as the son has an allale for the disease, since it’s a dominant autossomic disease
What are the implications for the quality of life to have the result of an early genotyping of a dominant ataxia?
The implication of early genotyping of a dominant ataxia can vary depending on the individual and the specific type of ataxia. However, early diagnosis can help in the following ways:
- Better management of symptoms
- Better understanding of the condition
- Access to clinical trials
It is important to note that genetic testing can have psychological implications for the patient and their family members. Therefore, it is important to consider genetic counseling before and after testing to help the patient and their family members understand the implications of the test results
What are the current symptomatic treatments to ataxia patients?
- Muscle spasticity, spasms & joint contractures
- Tremor
- Dystonia
- Scoliosis
- Pain
Weight of a normal brain?
1300 to 1400 g
What is ubiquitin?
It is a protein that functions as a cellular signaler and has an important role in cellular regulation
Where the striatum and substantia nigra are located in the brain?
Striatum (or corpus striatum, also called the striate nucleus): is a nucleus (a cluster of neurons) inthe subcortical basal ganglia of theforebrain.
Substantia nigra: Locatedwithin the midbrain posterior to the crus cerebri fibers of the cerebral peduncle, the substantia nigra can be functionally and morphologically divided into two regions, the pars compacta (SNpc) containing dopaminergic neurons and the pars reticulata (SNpr) with inhibitor gamma-aminobutyric acid-containing
Why did Patient X presented the symptoms earlier than is common? (Hypothesis)
- It’s possible that he had more repetitions of CAG, which made his symptoms appear earlier
- Sometimes, SCA3 results in earlier age of onset and more severe symptoms as the gene is passed down the generations. This phenomenon is known asanticipation. The explanation for this phenomenon is the instability of the extend SCA3 gene, which gets longer as it passes from parent to child (on this disease, the child normally have more CAG repetitions the their parent)
- Probably because of the car accident that he suffered, maybe through the severe concussions
