La degeneración espinocerebral puede tener origen genético y aunque la ciencia ha avanzado mucho en los últimos años esta enfermedad. DEGENERACIÓN ESPINOCEREBRAL La degeneración espinocerebelosa o degeneración espino cerebral es una enfermedad en la cual las. Review Article. Enfermedades neurodegenerativas: La ataxia espinocerebelosa tipo 7 en México. Rolando Garcia-Martinez1*, Elizabeth Hernandez2, Rebeca.

Author: Dugrel Kagalmaran
Country: Rwanda
Language: English (Spanish)
Genre: Life
Published (Last): 13 November 2013
Pages: 57
PDF File Size: 13.31 Mb
ePub File Size: 15.9 Mb
ISBN: 194-8-94265-587-4
Downloads: 23905
Price: Free* [*Free Regsitration Required]
Uploader: Yozshuzuru

eNeurobiología – Revista electrónica

To date, more than 35 SCAs have been described, and, in at least seven of these diseases, the repeated element is a CAG triplet coding for glutamine. Most deeneracion the found studies employed balance, gait, muscle strengthening, stretching and coordination exercises. This was the first report of SCA7 in the state of Veracruz.

The improvement in GAS was also maintained. The authors concluded that the treatment was efficient in the long term. Still, it is hard to distinguish if the lack of benefit retention after an exercise program is owed to the progressive degeneration, characteristic of the disease, to the inability to retain the learned movement patterns or to the need to elect more appropriate exercises for these patients.

Identification, selection and the posterior quality assessment of the article by means of the physiotherapy evidence database scale PEDro 19 was made by two researchers, independently.

Moreover, severe transcriptional alterations have been detected in several cellular models, including yeast and espjnocerebelosa cells that had glutamine repeats in the ataxin-7 protein.

It is also used to describe a gait disorder, “drunk walk”, which is characterized by instability, lack of coordination, and increased base of support. Spinocerebellar ataxia, Neurodegenerative disease, Triplet repeats, Ataxin. Falls in degenerative cerebellar ataxias. Klockgether T, Paulson H. Among the six eligible studies, one of them did not reach the minimum score for inclusion Figure 1 and Table 1.

The name SCA24 was assigned to the single recessive form of spinocerebellar ataxia, 10 and dentatorubral-pallidoluysian atrophy DRPLA is included in this group. In this group, the scores of the used assessment methods returned to baseline two weeks after the end of applications. It is of particular interest to focus on cases of SCA7, which have been detected in some states of Mexico, although SCA7 is also present in other countries.


While the clinical and neuropathological characteristics of the various neurodegenerative diseases differ, they share the symptoms of neuronal degeneration, and the subsequent functional impairment of the affected areas. In the long term, Miyai et al. Cerebellum and procedural learning: This suggests that the interventions used for ataxias of other etiologies can also be useful for the SCA treatment, even though this fact is not completely clear.

Ten simple TMS pulses were applied once a day for 21 days. Indeed, Fryer et al. Out of these, were excluded for not meeting the inclusion criteria. Brain pathology of spinocerebellar ataxias. X-linked ataxia is a disorder that affects men in one or more espijocerebelosa in the maternal line, and this ataxia is among the most common disorders observed Table 3.

The white point inside the squares or circles indicates individuals with suspected disease.

Neurodegenerative diseases: The spinocerebellar ataxia type 7 in Mexico

In this espiocerebelosa, the objectives of this review are: Neurodegenerative diseases constitute a terrible disability, and can cause physical and psychological suffering in patients and their families.

All the contents of this journal, except where otherwise noted, is licensed under a Creative Commons Attribution License. Therefore, the good results found in this study indicate that different types of exercise could be equally beneficial for these patients.

Future studies including only patients with SCA, which would describe the staging of the disease, including a proper control group, blind evaluators, description of the impact of treatment on activities and participation and containing a detailed description of the intervention protocol are necessary to select the most adequate approaches for the treatment of patients with SCA.

SCA7 is characterized by progressive cerebellar ataxia; ophthalmoplegia; dysarthria; dysphagia; decreased movements saccades and visual acuity; pyramidal and extrapyramidal signs; deep sensory loss; and in some cases, symptoms of dementia. The clinical features and classification of the late onset autosomal dominant cerebellar ataxias.


Approximately 15 years ago, it was discovered that many neurodegenerative diseases are attributable to increases in unstable triplet repeats in DNA. However, espinocerrebelosa determined which the most efficient one was.

The man of the first generation in the three subfamilies is the same. Defects in the gene for the protein of microsomal triglyceride transfer of chromosome 2p Physical therapy studies for SCA treatment and their methodological quality were examined. Mitochondrial diseases are due to a mutation in the mitochondrial genes that are responsible for energy production. MELAS syndrome mitochondrial encephalomypathy, lactic acidosis with stroke-like episodes.

autosomal dominant cerebellar ataxia – Wikidata

Different pathogenic mechanisms for autosomal dominant disorders have been identified. One member of subfamily B II, 2 and one of the subfamily C IV,20 who were suspected to have the disease were not married and had no offspring.

Intensive coordinative training improves motor performance in degenerative cerebellar disease. Clinical trials published in Portuguese, English and Spanish from on were included. However, larger expansions can cause the symptoms that are characteristic of neurodegenerative disease.

All available evidence suggests that these disorders are caused by the abnormal function of a protein called “ataxin” e. However, it was observed that 22 out of the 42 patients had retained improvement in at least one of the assessed parameters during the period.

However, these characteristics can vary even among members of the same family. However, the mechanism by which these effects are mediated is unknown.

Defect in the MeCP2 gene on the X chromosome.