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Movement disorders in hereditary ataxias
Pedro J Garcia Ruiz1, David Mayo, Jaime Hernandez
1Department of Neurology, Fundación Jimenez Diaz, Avda Reyes Catolicos 2, Madrid, Spain. pgarcia@fjd.es
Insights
Movement disorders are common in hereditary ataxias (HA), affecting both dominant and recessive forms. Postural tremor and dystonia were the most frequent movement disorders observed in patients with HA.
Area of Science:
- Neurology
- Genetics
- Movement Disorders
Background:
- Movement disorders are recognized in certain dominant hereditary ataxias (HA), such as spinocerebellar ataxia type 3 (SCA3) and dentatorubral-pallidoluysian atrophy.
- However, the prevalence and classification of movement disorders in other dominant and recessive forms of HA remain less understood.
Purpose of the Study:
- To prospectively investigate the presence and types of movement disorders in a cohort of patients with confirmed hereditary ataxia.
- To compare the occurrence of movement disorders between dominant and recessive forms of HA.
Main Methods:
- Prospective study of 84 patients with a confirmed family history of ataxia over 3 years.
- Classification of HA cases into dominant (38) and recessive (46) subtypes, including specific diagnoses like Friedreich ataxia (FA) and various SCAs.
- Systematic observation and documentation of movement disorders.
Main Results:
- Movement disorders were observed in 52% of dominant HA patients and 54% of recessive HA patients.
- Postural tremor was the most common (27 cases), followed by dystonia (22 cases).
- Movement disorders, including akinetic rigid syndrome and coexisting conditions, were prevalent across both dominant and recessive HA types.
Conclusions:
- Movement disorders are frequent findings in hereditary ataxias, irrespective of their inheritance pattern (dominant or recessive).
- The study highlights the importance of assessing for movement disorders in all forms of HA, including Friedreich ataxia.
Abstract:
Movement disorders are well known features of some dominant hereditary ataxias (HA), specially SCA3/Machado-Joseph disease and dentatorubropallidolusyan atrophy. However, little is known about the existence and classification of movement disorders in other dominant and recessive ataxias. We prospectively studied the presence of movement disorders in patients referred for HA over the last 3 years. Only those patients with a confirmed family history of ataxia were included. We studied 84 cases of HA, including 46 cases of recessive and 38 cases of dominant HA. Thirty out of 46 cases of recessive HA could be classified as: Friedreich ataxia (FA), 29 cases; vitamin E deficiency, 1 case. Twenty-three out of 38 cases of dominant HA could be classified as: SCA 2, 4 cases; SCA 3, 8 cases; SCA 6, 4 cases; SCA 7, 6 cases and SCA 8, 1 case. We observed movement disorders in 20/38 (52%) patients with dominant HA and 25/46 (54%) cases with recessive HA, including 16 patients (16/29) with FA. In general, postural tremor was the most frequent observed movement disorder (27 cases), followed by dystonia (22 cases). Five patients had akinetic rigid syndrome, and in 13 cases, several movement disorders coexisted. Movement disorders are frequent findings in HA, not only in dominant HA but also in recessive HA.