<i>VRK1</i> variants in two Portuguese unrelated patients with childhood-onset motor neuron disease

Silva, Daniela Pimenta; Sá, Mariana Soeiro E; Silveira, Fernando; Pinto, Susana; Gromicho, Marta; Sousa, Ana Berta; Leão, Miguel; Carvalho, Mamede de

doi:10.1080/21678421.2020.1746343

Cited by 7 publications

(3 citation statements)

References 12 publications

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“…No other family members were affected with ALS-like symptoms. There is a second case report of two Portuguese patients with initial presentation of distal limb weakness and spasticity [ 70 ]. VRK1 mutations have also been associated with an atypical form of infantile spinal muscular dystrophy with only lower motor neuron findings and pontocerebellar atrophy [ 71 ].…”

Section: Resultsmentioning

confidence: 99%

Juvenile Amyotrophic Lateral Sclerosis: A Review

Lehky

2021

Genes

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Juvenile amyotrophic lateral sclerosis (JALS) is a rare group of motor neuron disorders with gene association in 40% of cases. JALS is defined as onset before age 25. We conducted a literature review of JALS and gene mutations associated with JALS. Results of the literature review show that the most common gene mutations associated with JALS are FUS, SETX, and ALS2. In familial cases, the gene mutations are mostly inherited in an autosomal recessive pattern and mutations in SETX are inherited in an autosomal dominant fashion. Disease prognosis varies from rapidly progressive to an indolent course. Distinct clinical features may emerge with specific gene mutations in addition to the clinical finding of combined upper and lower motor neuron degeneration. In conclusion, patients presenting with combined upper and lower motor neuron disorders before age 25 should be carefully examined for genetic mutations. Hereditary patterns and coexisting features may be useful in determining prognosis.

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Section: Resultsmentioning

confidence: 99%

Juvenile Amyotrophic Lateral Sclerosis: A Review

Lehky

2021

Genes

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“…Furthermore, homozygous pathogenic variants in SOD1 have recently been associated with SOD1 deficiency and a very early-onset upper motor neuron-dominant phenotype, called Progressive Spastic Tetraplegia and Axial Hypotonia (STAHP) [ 57 ]. Autonomic disturbances and variable sensory neuropathy may be identified in VRK1 -related JALS and SPG11 variants [ 5 , 33 , 34 , 58 ].…”

Section: Clinical Presentationmentioning

confidence: 99%

“…These criteria are currently applied also in JALS to define the presence of MND, being complemented by the onset of motor symptoms and signs before the age of 25 years, regardless of clinical severity. Nerve conduction studies may also demonstrate chronic sensory axonal polyneuropathy in cases of JALS associated with SPG11 , VRK1 , and SPTLC1 genes [ 29 , 33 , 34 , 58 ].…”

Section: Diagnostic Work-up and Differential Diagnosismentioning

confidence: 99%

Clinical and Genetic Aspects of Juvenile Amyotrophic Lateral Sclerosis: A Promising Era Emerges

Souza,

Serrano,

Farias

et al. 2024

Genes

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Juvenile Amyotrophic Lateral Sclerosis is a genetically heterogeneous neurodegenerative disorder, which is frequently misdiagnosed due to low clinical suspicion and little knowledge about disease characteristics. More than 20 different genetic loci have been associated with both sporadic and familial juvenile Amyotrophic Lateral Sclerosis. Currently, almost 40% of cases have an identifiable monogenic basis; type 6, associated with FUS gene variants, is the most prevalent globally. Despite several upper motor neuron-dominant forms being generally associated with long-standing motor symptoms and slowly progressive course, certain subtypes with lower motor neuron-dominant features and early bulbar compromise lead to rapidly progressive motor handicap. For some monogenic forms, there is a well-established genotypic-phenotypic correlation. There are no specific biochemical and neuroimaging biomarkers for the diagnosis of juvenile Amyotrophic Lateral Sclerosis. There are several inherited neurodegenerative and neurometabolic disorders which can lead to the signs of motor neuron impairment. This review emphasizes the importance of high clinical suspicion, assessment, and proper diagnostic work-up for juvenile Amyotrophic Lateral Sclerosis.

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