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Movement disorders
Published in Ibrahim Natalwala, Ammar Natalwala, E Glucksman, MCQs in Neurology and Neurosurgery for Medical Students, 2022
Ibrahim Natalwala, Ammar Natalwala, E Glucksman
Stroke is an incorrect answer as it is a sudden neurological deficit. MS is unlikely, as it usually presents at a younger age and symptoms would include muscle weakness. Vitamin B12 deficiency is also incorrect, since vibration sense is completely normal in this patient. Vitamin B12 deficiency can cause subacute combined degeneration of the cord; this affects the dorsal columns that carry proprioception and vibration. Friedreich’s ataxia affects the young.
The Neurologic Disorders in Film
Published in Eelco F. M. Wijdicks, Neurocinema—The Sequel, 2022
The Cake Eaters (2009) was directed by Mary Stuart Masterson and stars Kristen Stewart, Aaron Stanford, Jayce Bartok, Bruce Dern, and Elizabeth Ashley. The film introduces Friedreich’s ataxia—a neurologic disorder for which there is no treatment. It results in progressive ataxia, dysarthria, spasticity, and cardiomyopathy.145 The disorder was clearly chosen to add pathos to the life of a teenager afflicted with a neurodegenerative disease. The director contacted several persons with Friedreich’s disease and sought input from the Friedreich’s Ataxia Research Alliance (FARA). Kristen Stewart plays Georgia, a 15-year-old who falls easily and locks herself up in her home. She displays marked ataxia and slurred speech. She walks holding on to a wall in school or is assisted by friends. She refuses a wheelchair when one is offered. None of the common difficulty with fine dexterity is shown. She feels a sense of urgency now that she has been diagnosed, which leads to poor decisions. However, the progression and potential fatality of the cardiac disease is discussed. There is no further neurologic insight or discussion of the consequences of the disease, and therefore, the film is of little interest to physicians.
Hereditary Spastic Paraparesis and Other Hereditary Myelopathies
Published in Anand D. Pandyan, Hermie J. Hermens, Bernard A. Conway, Neurological Rehabilitation, 2018
Jon Marsden, Lisa Bunn, Amanda Denton, Krishnan Padmakumari Sivaraman Nair
Variations of the typical Friedreich’s ataxia presentation exist in ~10% of cases having a positive molecular test for Friedreich’s ataxia. People can show Friedreich’s ataxia with retained reflexes (FARR) and also late-onset Friedreich’s ataxia (LOFA) or very late-onset Friedreich’s ataxia (VLOFA) where symptom onset occurs after 25 and 40 years, respectively.137 Unlike typical Friedreich’s ataxia, people with LOFA show signs of spasticity (40% of cases) and have retained reflexes (46% of cases).138,139 Non-neurological symptoms such as cardiomyopathy, sphincter disturbances, scoliosis, and pes cavus are less frequent in atypical FRDA.139 In VLOFA, a spastic tetraparesis without marked ataxia or neuropathy has been described.140 Oculomotor abnormalities may be absent in atypical FA. People with LOFA have a slower progression and smaller GAA expansions. Another atypical FRDA is found in Acadian families from New Brunswick, Canada. These individuals can have the same onset and symptoms as FRDA but without the involvement of cardiomyopathy and diabetes and may also show retained reflexes and spasticity.
A systematic review of disease prevalence, health-related quality of life, and economic outcomes associated with Friedreich’s Ataxia
Published in Current Medical Research and Opinion, 2022
Katharina Buesch, Rongrong Zhang
Friedreich’s ataxia (FA) is a rare, autosomal recessive genetic condition that accounts for the majority of inherited ataxia cases1. In FA, the production of the mitochondrial protein frataxin is reduced, which adversely affects iron metabolism and results in the accumulation of iron within certain tissues. Published evidence suggests that toxicity caused by iron accumulation may play a role in the pathophysiology associated with FA, although this has not been definitively established2. Affected areas primarily include the dorsal columns of the spinal cord, peripheral nerves, and the cerebellum. As a result, FA is consistently characterized by progressive gait and limb ataxia, dysarthria, and loss of lower limb reflexes; other clinical features are variable1,3. The myocardium and endocrine pancreas are also frequently affected by the disease process, which can result in the development of cardiomyopathy and diabetes mellitus, respectively3. FA affects those of European, North African, Middle Eastern or Indian origin. Cases are very rarely, if at all, observed in sub-Saharan Africa, China, Japan, and Southeast Asia4,5.
The concepts of heredity and degeneration in the work of Jean-Martin Charcot
Published in Journal of the History of the Neurosciences, 2020
On Tuesday, March 13, 1888, Charcot generalized heredity as etiology to all diseases of the nervous system: On one hand, Friedreich’s ataxia is hardly common ataxia and on the other, there is more than ever good reason to believe that common ataxia is a hereditary disease, in the same way that other members of the neuropathological family are. In addition, Friedreich’s ataxia is not, in the strictest sense of the word, a hereditary disease so much as a family disease, a generational disease, which is not quite the same thing. … As I mentioned earlier, the etiological characteristics of Friedreich’s ataxia are remarkable, leading some authors to call it hereditary ataxia. But, as I have just told you, real ataxia is also a hereditary disease. This bears repeating, even though I have already mentioned it to you several times. In such cases, it is not, of course, a matter of homologous heredity, which is very rare, but rather the heredity of transformation, which, as you know, is the rule. (258)
New developments in pharmacotherapy for Friedreich ataxia
Published in Expert Opinion on Pharmacotherapy, 2019
Alexandra Clay, Patrick Hearle, Kim Schadt, David R. Lynch
At present, approaches to the treatment of FRDA include targeting symptoms of FRDA, modulating long-term effects of frataxin deficiency and mitochondrial dysfunction, and attempting to increase levels of frataxin itself. As Friedreich ataxia results from chronic frataxin deficiency, restoring native frataxin levels in individuals with FRDA to carrier levels across all affected tissues at an early point in the disorder should provide a biochemical cure and stabilize disease progression. Historically, research efforts have not focused on this approach, but instead, have been directed to downstream events [60–62]. Present approaches in therapeutic development, however, are directed at all levels of dysfunction in FA, including mitochondrial augmentation to ameliorate rather than cure the disease. Therapies to increase frataxin levels are becoming a primary focus, with gene therapy being an attractive alternative to small molecule treatments.