Transcranial sonography: Brazilian experience

Pedroso, José Luiz; Bor-Seng-Shu, Edson; Braga‐Neto, Pedro; Teixeira, Manoel Jacobsen; Barsottini, Orlando Graziani Póvoas

doi:10.1590/s0004-282x2012000400021

Cited by 3 publications

(2 citation statements)

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“…In a Brazilian series of 104 patients with MJD, parkinsonism was observed in only 8 patients, and there was no correlation with CAG repeat size or age of symptom onset. It should be noted that levodopa is a very effective treatment in this group of patients with MJD . It is interesting to note that hyperechogenicity of the substantia nigra has been observed through transcranial sonography in patients with MJD, as described in PD, although no correlation between echogenicity and parkinsonian features has been reported (Fig.…”

Section: Main Non‐motor Symptoms and Extra‐cerebellar Signs Already Dmentioning

confidence: 88%

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Nonmotor and extracerebellar features in Machado‐Joseph disease: A review

et al. 2013

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Spinocerebellar ataxia type 3 or Machado-Joseph disease is the most common spinocerebellar ataxia worldwide, and the high frequency of nonmotor manifestations in Machado-Joseph disease demonstrates how variable is the clinical expression of this single genetic entity. Anatomical, physiological, clinical, and functional neuroimaging data reinforce the idea of a degenerative process involving extracerebellar regions of the nervous system in Machado-Joseph disease. Brain imaging and neuropathologic studies have revealed atrophy of the pons, basal ganglia, midbrain, medulla oblongata, multiple cranial nerve nuclei, and thalamus and of the frontal, parietal, temporal, occipital, and limbic lobes. This review provides relevant information about nonmotor manifestations and extracerebellar symptoms in Machado-Joseph disease. The main nonmotor manifestations of Machado-Joseph disease described in previous data and discussed in this article are: sleep disorders, cognitive and affective disturbances, psychiatric symptoms, olfactory dysfunction, peripheral neuropathy, pain, cramps, fatigue, nutritional problems, and dysautonomia. In addition, we conducted a brief discussion of noncerebellar motor manifestations, highlighting movement disorders. © 2013 Movement Disorder Society.

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Section: Main Non‐motor Symptoms and Extra‐cerebellar Signs Already Dmentioning

confidence: 88%

“…It is interesting to note that hyperechogenicity of the substantia nigra has been observed through transcranial sonography in patients with MJD, as described in PD, although no correlation between echogenicity and parkinsonian features has been reported (Fig. ) …”

Section: Main Non‐motor Symptoms and Extra‐cerebellar Signs Already Dmentioning

confidence: 95%

Nonmotor and extracerebellar features in Machado‐Joseph disease: A review

et al. 2013

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Clinical Features of Machado-Joseph Disease

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Gonçalves

et al. 2018

Polyglutamine Disorders

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Machado-Joseph disease (MJD) also known as Spinocerebellar ataxia type 3, is a hereditary neurodegenerative disease associated with severe clinical manifestations and premature death. Although rare, it is the most common autosomal dominant spinocerebellar ataxia worldwide and has a distinct geographic distribution, reaching peak prevalence in certain regions of Brazil, Portugal and China. Due to its clinical heterogeneity, it was initially described as several different entities and as had many designations over the last decades. An accurate diagnosis become possible in 1994, after the identification of the MJD1 gene. Among its wide clinical spectrum, progressive cerebellar ataxia is normally present. Other symptoms include pyramidal syndrome, peripheral neuropathy, oculomotor abnormalities, extrapyramidal signs and sleep disorders. On the basis of the presence/absence of important extra-pyramidal signs, and the presence/absence of peripheral signs, five clinical types have been defined. Neuroimaging studies like MRI, DTI and MRS, can be useful as they can characterize structural and functional differences in specific subgroups of patients with MJD. There is no effective treatment for MJD. Symptomatic therapies are used to relieve some of the clinical symptoms and physiotherapy is also helpful in improving quality of live. Several clinical trials have been carried out using different molecules like sulfamethoxazole-trimethoprim, varenicline and lithium carbonate, but the results of these trials were negative or showed little benefit. Future studies sufficiently powered and adequately designed are warranted.

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