Atypical Motor Neuron Disease variants: Still a diagnostic challenge in Neurology

Pinto, Wladimir B.V.R.; Debona, R.; Nunes, Patrícia; Assis, Anna Carolina Damm de; Lopes, Camila Galvão; Bortholin, Thiago; Dias, Renan Braido; Naylor, Fernando George Monteiro; Chieia, Marco Antônio Troccoli; Souza, Paulo Victor Sgobbi de; Oliveira, Acary Souza Bullé

doi:10.1016/j.neurol.2018.04.016

Cited by 22 publications

(24 citation statements)

References 116 publications

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“…Consistently, frontotemporal systems involvement in different-from-classical-ALS patients [ e . g ., Saberi et al ., 2015; Pinto et al ., 2019] appears to also be endorsed by genetic [ e . g ., Cooper-Knock et al ., 2014; Gómez-Tortosa et al ., 2017], neuropathological [ e .…”

Section: Discussionmentioning

confidence: 99%

Language impairment in motor neuron disease phenotypes different from classical amyotrophic lateral sclerosis: a review

Sbrollini

Preti

Zago

et al. 2021

Preprint

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BackgroundUp to 35-40% of patients with amyotrophic lateral sclerosis (ALS) present with language deficits falling within the spectrum of frontotemporal degeneration (FTD). It is currently debated whether frontotemporal involvement occurs or not in motor neuron disease (MND) phenotypes that differ from classical ALS (i.e., both non-ALS MNDs and non-classical ALS endo-phenotypes) - this stance being supported by the notion of a common pathology underlying MNDs. To investigate whether language dysfunctions also occur in patients with different-from-classical-ALS MNDs can; a) help determine whether the MND-FTD continuum could be broadened at a neuropsychological level; b) convey relevant entailments to cognitive diagnostics in these populations.AimsThe present study thus aimed at reviewing evidence regarding language impairment in different-from-classical-ALS MND patients. Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines were consulted to implement and report the present review. Studies were included if a) language was quantitatively assessed b) in patients diagnosed with different-from-classical-ALS MND phenotypes. Studies assessing demented patients only were excluded. From an original N=1117 contributions, N=20 group studies were finally included. Secondary outcomes were taken into account for qualitatively assessing potential biases in generalizing results.Main contributionStudies were divided into those assessing predominant-upper vs. - lower MND patients (UMND/LMND). Language dysfunctions appeared to be more prevalent and severe in UMND patients. Language screeners were able to detect language deficits in both groups. Lexical-semantic deficits appeared to be highly prevalent in both groups and a selective difficulty in action-vs. object-naming was systematically detected. Morpho-syntactic deficits were seldom reported in both groups. Phonological deficits and central dysgraphic features were found in UMND patients only.ConclusionPatients with different-from-classical-ALS MND phenotypes display language deficits similar to those of classical ALS patients (as far as both prevalence and type are concerned) and thus could be validly included in the MND-FTD continuum at a neuropsychological level. A greater cortical involvement might account for language deficits being more severe in UMND patients. Consistently with guidelines for cognitive assessment in ALS patients, action-naming tasks might represent a valid and sensitive tool for assessing language in UMND/LMND patients too.

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Section: Discussionmentioning

confidence: 99%

Language impairment in motor neuron disease phenotypes different from classical amyotrophic lateral sclerosis: a review

Sbrollini

Preti

Zago

et al. 2021

Preprint

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“…Juvenile Amyotrophic Lateral Sclerosis (JALS) is empirically classified as a phenotypic variant of ALS with onset of disease before 25 years of age and having a slower disease progression with prolonged survival compared to adult-onset ALS. JALS has a rare frequency with an estimated prevalence of 1 case per 1.000.000 and generally associated with autosomal recessive or autosomal dominant inheritance with highly penetrant genetic variants in causative genes as ALS2 , SPG11 , SIGMAR1 , SETX , SOD1 , UBQLN2 and FUS [ 23 – 25 ].…”

Section: Discussionmentioning

confidence: 99%

Progressive spastic tetraplegia and axial hypotonia (STAHP) due to SOD1 deficiency: is it really a new entity?

Souza

Pinto

Farias

et al. 2021

Orphanet J Rare Dis

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Background Amyotrophic Lateral Sclerosis (ALS) is a rare, progressive, and fatal neurodegenerative disease due to upper and lower motor neuron involvement with symptoms classically occurring in adulthood with an increasing recognition of juvenile presentations and childhood neurodegenerative disorders caused by genetic variants in genes related to Amyotrophic Lateral Sclerosis. The main objective of this study is detail clinical, radiological, neurophysiological, and genetic findings of a Brazilian cohort of patients with a recent described condition known as Spastic Tetraplegia and Axial Hypotonia (STAHP) due to SOD1 deficiency and compare with other cases described in the literature and discuss whether the clinical picture related to SOD1 protein deficiency is a new entity or may be represent a very early-onset form of Amyotrophic Lateral Sclerosis. Methods We conducted a case series report which included retrospective data from five Brazilian patients with SOD1 protein deficiency of a Brazilian reference center for Neuromuscular Disorders. Clinical data were obtained from a review of the medical records and descriptive statistics and variables were summarized using counts and percentages of the total population. Results All 5 patients presented with a childhood-onset neurodegenerative disorders characterized by spastic tetraplegia with axial hypotonia in all cases, with gestational history showing polyhydramnios in 4/5 and intrauterine growth restriction in 3/5 patients, with most patients initially presenting a normal motor development until the six month of life or during the first year followed by a rapidly progressive motor decline with severe dysphagia and respiratory insufficiency in all patients accompanied by cognitive impairment in 3/5 patients. All patients were homozygous for the c.335dupG (p.Cys112Trpfs*11) mutation in the SOD1 gene with completely decreased enzyme activity. Conclusions This case series is the biggest data collection of the new recent clinical entity described as Spastic Tetraplegia and Axial Hypotonia (STAHP) due to SOD1 deficiency.

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“…Non-5q SMA is an expanding and heterogeneous group of lower MND due to complex clinical and genetic aspects (Table 2) 3,4,8,9,10,11,12,13 . Up to 5% of all SMA cases result from genetic abnormalities in genes other than SMN1 14 and are currently included in this group.…”

Section: Non-5q Proximal Spinal Muscular Atrophymentioning

confidence: 99%

“…Motor neuron disease (MND) represents a wide and expanding group of different neurological disorders resulting from isolated or combined involvement of lower and upper motor neurons. The main adult-onset clinical disorder in this group is amyotrophic lateral sclerosis (ALS) 1 , however there is a high number of sporadic and hereditary neurological diseases that may present with MND phenotype and should be considered in the differential diagnosis (Table 1) 2,3,4 .…”

Section: Introductionmentioning

confidence: 99%

Adult-onset non-5q proximal spinal muscular atrophy: a comprehensive review

Pinto

Souza

Badia

et al. 2021

Arq. Neuro-Psiquiatr.

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Background: Adult-onset spinal muscular atrophy (SMA) represents an expanding group of inherited neurodegenerative disorders in clinical practice. Objective: This review aims to synthesize the main clinical, genetic, radiological, biochemical, and neurophysiological aspects related to the classical and recently described forms of proximal SMA. Methods: The authors performed a non-systematic critical review summarizing adult-onset proximal SMA presentations. Results: Previously limited to cases of SMN1-related SMA type 4 (adult form), this group has now more than 15 different clinical conditions that have in common the symmetrical and progressive compromise of lower motor neurons starting in adulthood or elderly stage. New clinical and genetic subtypes of adult-onset proximal SMA have been recognized and are currently target of wide neuroradiological, pathological, and genetic studies. Conclusions: This new complex group of rare disorders typically present with lower motor neuron disease in association with other neurological or systemic signs of impairment, which are relatively specific and typical for each genetic subtype.

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Atypical Motor Neuron Disease variants: Still a diagnostic challenge in Neurology

Cited by 22 publications

References 116 publications

Language impairment in motor neuron disease phenotypes different from classical amyotrophic lateral sclerosis: a review

Language impairment in motor neuron disease phenotypes different from classical amyotrophic lateral sclerosis: a review

Progressive spastic tetraplegia and axial hypotonia (STAHP) due to SOD1 deficiency: is it really a new entity?

Adult-onset non-5q proximal spinal muscular atrophy: a comprehensive review

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