Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS): typical clinical and neuroimaging features in a Brazilian family

Pedroso, José Luiz; Braga‐Neto, Pedro; Abrahão, Agessandro; Rivero, René Leandro Magalhães; Abdalla, Carolina; Abdala, Nitamar; Barsottini, Orlando Graziani Póvoas

doi:10.1590/s0004-282x2011000300004

Cited by 14 publications

(10 citation statements)

References 16 publications

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“…Magnetic resonance imaging confirmed some disease-specific findings previously reported, namely, atrophy of the superior cerebellar vermis and spinal cord, and a relatively bulky pons with stripes of hypointensity on T2-weighted sequences [22][23][24]. In addition, we confirm the recent findings on diffusion tensor MRI described by Gazulla et al [25,26].…”

Section: Discussionsupporting

confidence: 91%

“…Finally, brain magnetic resonance imaging (MRI) studies showed characteristic features of the disease, namely superior vermis atrophy and linear hypointensities in the pons [18,[22][23][24]. More recently, analyses of diffusion tensor tractographies showed the presence of an abnormally large number of pontocerebellar fibres, causing a bulky appearance of the basis pontis and thick middle cerebellar peduncles (MCP) [25,26].…”

Section: Introductionmentioning

confidence: 99%

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Supratentorial and pontine MRI abnormalities characterize recessive spastic ataxia of Charlevoix‐Saguenay. A comprehensive study of an Italian series

Prodi

Grisoli

Panzeri

et al. 2012

Euro J of Neurology

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Section: Discussionsupporting

confidence: 91%

Section: Introductionmentioning

confidence: 99%

Supratentorial and pontine MRI abnormalities characterize recessive spastic ataxia of Charlevoix‐Saguenay. A comprehensive study of an Italian series

Prodi

Grisoli

Panzeri

et al. 2012

Euro J of Neurology

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“…ARSACS is an early-onset spastic ataxia, highly prevalent in the Charlevoix-Saguenay-Lac-Saint-Jean (carrier frequency 1/22) region of Quebec [Engert et al, 2000], and a frequent cause of early-onset cerebellar ataxia in European countries [Vermeer et al, 2008]. This disease is characterized by spasticity, dysarthria, nystagmus, distal muscle wasting, finger and foot deformities, mixed sensorimotor neuropathy, and retinal hypermyelination [Breckpot et al, 2008;Pedroso et al, 2011]. Spasticity in the lower limbs often occurs when there is still little sign of cerebellar dysfunction [Breckpot et al, 2008], evidencing the clinical overlap of ARSACS with HSPs.…”

Section: Spastic Ataxiasmentioning

confidence: 99%

Revisiting genotype-phenotype overlap in neurogenetics: Triplet-repeat expansions mimicking spastic paraplegias

Bettencourt

Quintáns

Ros³

et al. 2012

Hum. Mutat.

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ABSTRACT:Hereditary spastic paraplegias (HSPs) constitute a heterogeneous group of neurological disorders, characterized primarily by progressive spasticity and weakness of the lower limbs. HSPs are caused by mutations in multiple genes (at least 48 loci and 28 causative genes). The clinical spectrum of HSPs is wide and important differences have been reported between patients with distinct mutations in the same gene, or even between different family members bearing the same mutation. Many patients with HSP present clinical deficits related to the involvement of neuronal systems other than corticospinal tracts, namely, peripheral nerves, sensory, or cerebellar pathways. These cases may be difficult to differentiate from other neurological diseases (e.g., hereditary ataxias), also genetically and clinically heterogeneous. As an illustration of how overlapping this genotype-phenotype relationship is, and the difficulties that it brings upon the development of neurogenetic algorithms and databases, we review the main clinical and genetic features of HSPs, and summarize reports on cases of triplet-repeat spinocerebellar ataxias that can mimic HSP phenotypes. This complex scenario makes the necessity of high-quality, curated mutation databases even more urgent, in order to develop adequate diagnostic guidelines, correct interpretation of genetic testing, and appropriate genetic counseling.

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“…This is a crucial issue, since spasticity in a context of ARCA (also called hereditary spasticataxias) might suggest other rare neurological conditions, such as ARSACS, hereditary spastic paraplegia and autosomal recessive spastic ataxia 16,17 . Therefore, spasticity should be considered a neurological hallmark against the diagnosis of EOCA.…”

Section: Referencesmentioning

confidence: 99%

Clinical spectrum of early onset cerebellar ataxia with retained tendon reflexes: an autosomal recessive ataxia not to be missed

Pedroso

Braga‐Neto

Ricarte

et al. 2013

Arq. Neuro-Psiquiatr.

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Autosomal recessive cerebellar ataxias are a heterogeneous group of neurological disorders. In 1981, a neurological entity comprised by early onset progressive cerebellar ataxia, dysarthria, pyramidal weakness of the limbs and retained or increased upper limb reflexes and knee jerks was described. This disorder is known as early onset cerebellar ataxia with retained tendon reflexes. In this article, we aimed to call attention for the diagnosis of early onset cerebellar ataxia with retained tendon reflexes as the second most common cause of autosomal recessive cerebellar ataxias, after Friedreich ataxia, and also to perform a clinical spectrum study of this syndrome. In this data, 12 patients from different families met all clinical features for early onset cerebellar ataxia with retained tendon reflexes. Dysarthria and cerebellar atrophy were the most common features in our sample. It is uncertain, however, whether early onset cerebellar ataxia with retained tendon reflexes is a homogeneous disease or a group of phenotypically similar syndromes represented by different genetic entities. Further molecular studies are required to provide definitive answers to the questions that remain regarding early onset cerebellar ataxia with retained tendon reflexes.

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Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS): typical clinical and neuroimaging features in a Brazilian family

Cited by 14 publications

References 16 publications

Supratentorial and pontine MRI abnormalities characterize recessive spastic ataxia of Charlevoix‐Saguenay. A comprehensive study of an Italian series

Supratentorial and pontine MRI abnormalities characterize recessive spastic ataxia of Charlevoix‐Saguenay. A comprehensive study of an Italian series

Revisiting genotype-phenotype overlap in neurogenetics: Triplet-repeat expansions mimicking spastic paraplegias

Clinical spectrum of early onset cerebellar ataxia with retained tendon reflexes: an autosomal recessive ataxia not to be missed

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