Leucodistrofia metacromática. Presentación de caso

Espejo, Lina María; Espriella, Ricardo de la; Hernández, José Fernando

doi:10.1016/j.rcp.2016.05.001

Cited by 5 publications

(5 citation statements)

References 14 publications

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“…Adult MLD is the less severe form of the disease. In the adult form, psychoses (55), cognitive and behavioral impairment (53,56), ataxia, polyneuropathy, and epileptic seizures (57) are found. Patients experience depressive disorder and sudden mood swings (58).…”

Section: Mld Classificationmentioning

confidence: 99%

“…Another typical feature is psychotic symptoms, such as hallucinations and illusions, which may be associated with a violation of cortico-cortical and cortico-subcortical connections, especially involving the frontal lobes (5). Adult MLD is the least common form of MLD, and it is often mistakenly diagnosed as early-onset dementia (58) or schizophrenia (56,59) because of its slow progression. Slow disease progression with periods of relative stability and regression is typical of an adult MLD.…”

Section: Mld Classificationmentioning

confidence: 99%

“…Diagnosis of late onset forms of MLD is often more difficult. For instance, proper diagnosis is problematic as adult MLD is often mistaken for schizophrenia (56) or other types of mental disorders (53,58,67), therefore delaying the beginning of therapy.…”

Section: Mld Diagnosismentioning

confidence: 99%

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Metachromatic Leukodystrophy: Diagnosis, Modeling, and Treatment Approaches

et al. 2020

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Section: Mld Classificationmentioning

confidence: 99%

Section: Mld Classificationmentioning

confidence: 99%

See 1 more Smart Citation

Metachromatic Leukodystrophy: Diagnosis, Modeling, and Treatment Approaches

et al. 2020

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“…However, in the Orphanet database that describes the MLD, an estimated prevalence of 1 case in 625,000, with an incidence of 0.5 and 1 in 50,000 25,[27][28][29][30] . In Latin America, the reports generated so far are focused on describing cases and mutations in the ARSA gene [31][32][33][34][35][36][37] .…”

Section: Epidemiology -Prevalencementioning

confidence: 99%

“…At the beginning of the disease, the patient is treated with remedies for epilepsy, muscle relaxants for contractures, physical therapy to improve nerve and muscle function, stimulation to maximize the intellect, and finally support to the families of those affected so that the parents and/or caregivers can anticipate decisions about wheelchairs, feeding tubes, and other care 9,36,56 .…”

Section: Symptom Treatment and Supportmentioning

confidence: 99%

Metachromatic Leukodystrophy: Diagnosis and Treatment Challenges

Sanchez-Alvarez

Bautista-Niño

Trejos-Suárez

et al. 2021

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Metachromatic leukodystrophy is a neurological disease of the lysosomal deposit that has a significant impact given the implications for the neurodegenerative deterioration of the patient. Currently, there is no treatment available that reverses the development of characteristic neurological and systemic symptoms. Objective. Carry out an updated bibliographic search on the most critical advances in the treatment and diagnosis for LDM. A retrospective topic review published in English and Spanish in the Orphanet and Pubmed databases. Current treatment options, such as enzyme replacement therapy and hematopoietic stem cell transplantation aimed at decreasing the rapid progression of the disease, improving patient survival; however, these are costly. The pathophysiological events of intracellular signaling related to the deficiency of the enzyme Arylsulfatase A and subsequent accumulation of sulphatides and glycosylated ceramides have not yet been established. Recently, the accumulation of C16 sulphatides has been shown to inhibit glycolysis and insulin secretion in pancreatic cells. The significant advance in technology has allowed timely diagnosis in patients suffering from LDM; however, they still do not have an effective treatment.

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Case report: A compound heterozygous mutations in ARSA associated with adult-onset metachromatic leukodystrophy

Wang

Lu²,

Sun³

et al. 2022

Front. Neurol.

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Metachromatic Leukodystrophy (MLD) is a rare autosomal recessive disease, which is caused by mutations in the arylsulfatase A (ARSA) gene. The ARSA gene is located on chromosome 22q13, containing eight exons. According to the age of onset, MLD can be divided into late infantile type, juvenile type, and adult type. Adult MLD has an insidious onset after the age of 16 years. Additionally, intellectual as well as behavioral changes, such as memory deficits or emotional instability, are commonly the first presenting symptoms. There is a study that reported an adult-onset MLD manifested cognitive impairment progressively due to compound heterozygous mutations of NM_000487: c.[185_186dupCA], p.(Asp63GlnfsTer18), and NM_000487: c.[154G>T], p.(Gly172Cys), rs74315271 in the ARSA gene, finding that the c.[154G>T], p.(Gly172Cys) is a novel missense mutation. Brain magnetic resonance imaging (MRI) revealed symmetrical demyelination of white matter. The activity of ARSA enzymatic in leukocytes decreased. Nerve conduction studies displayed that evidence of polyneuropathy was superimposed upon diffuse, uniform demyelinating, and sensorimotor polyneuropathy. Family genes revealed that each family member carried one of two heterozygous mutant genes. She has been discharged and is currently being followed up. This study found a compound heterozygous mutation in the ARSA gene associated with MLD and identified a novel missense mutation NM_000487: c.[154G>T], p.(Gly172Cys), rs74315271. This will provide a critical clue for prenatal diagnosis of the offspring in this family, and expand the mutation spectrum of MLD-related ARSA.

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Leucodistrofia metacromática. Presentación de caso

Cited by 5 publications

References 14 publications

Metachromatic Leukodystrophy: Diagnosis, Modeling, and Treatment Approaches

Metachromatic Leukodystrophy: Diagnosis, Modeling, and Treatment Approaches

Metachromatic Leukodystrophy: Diagnosis and Treatment Challenges

Case report: A compound heterozygous mutations in ARSA associated with adult-onset metachromatic leukodystrophy

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