Radiological Clue to Diagnosis of Canavan Disease

Sreenivasan, Priya; Purushothaman, K. K.

doi:10.1007/s12098-012-0794-9

Cited by 8 publications

(5 citation statements)

References 5 publications

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“…The nuclear magnetic resonance (RMN) was performed after admission, revealing widespread alteration of white matter with symmetrical involvement of the subcortical U-fibres, nucleus, pallidum, thalamus, optic radiations, substantia nigra and brainstem (figure 2). The RMN spectroscopy of semioval centres revealed an increased acid N -acetylaspartate/choline (NAA/Cho) and acid N -acetylaspartate/creatinine ratio, suggesting a CS diagnosis,2 which was confirmed through the analysis of the ASPA gene, detecting the mutations p.A305E and p.A7Vdel8_69. We are firmly convinced of the possibility of increasing the number of early diagnoses of CS considering the following neonatal signs: progressive macrocephaly already present during the neonatal period and neurological deterioration.…”

Section: Case Presentationmentioning

confidence: 88%

Early diagnosis of Canavan syndrome: how can we get there?

Bernardo¹,

Giordano

Sordino³

et al. 2015

BMJ Case Reports

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Canavan syndrome is a rare genetic disorder characterised by progressive severe leukodystrophy involving the degeneration of white matter. Currently, there is no effective therapy, but after recent studies using early gene therapy, the outcome has appeared to improve. It is of fundamental importance to recognise signs of neonatal Canavan syndrome early on. We describe a case of neonatal Canavan syndrome in which diagnosis was made only at the fourth month of age.

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Section: Case Presentationmentioning

confidence: 88%

Early diagnosis of Canavan syndrome: how can we get there?

Bernardo¹,

Giordano

Sordino³

et al. 2015

BMJ Case Reports

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“…In order to improve the quality of life, symptomatic and early supportive therapy was implemented and thorough genetic family counselling was also done. 3…”

Section: Case Presentationmentioning

confidence: 99%

Canavan Disease - A Rare Case Report

Daraz¹,

Shabir²,

Afshan

2021

Int J Sci Healthcare Res

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Canavan disease is a rare autosomal recessive disorder characterized by progressive leukodystrophy involving white matter of the brain. Disease leads to severe psychomotor retardation, seizures and premature death. More prevalent among Jewish population. Among non-Jewish population incidence is approximately 1:100000. Prognosis is guarded with current management only symptomatic and supportive. There is no effective treatment, however early gene therapy has improved the quality of life of patients. Furthermore, Lithium citrate has also shown certain positive results in experimental models using rats. Even few human studies have also been done, however promising results require larger controlled trials. Keywords: MRI: Magnetic Resonance and Imaging, EEG: Electro Encephalogram, CD: Canavan Disease, ASPA: acetyl aspartate, LUCS: Lower Uterine Cesarean Section, OFC: Occipito Frontal Circumference, NAA: N-acetyl aspartate

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“…On the ultrastructural level, swollen astrocytic mitochondria are present as well as disruption of the myelin sheath order [119]. On MRI (magnet resonance imaging) T2 sequences, hyperintensity of mainly the white matter is characteristic, not only for leukodystrophy in general, but for Canavan disease as well [122, 123]. This hyperintensity is due to water accumulation within the subcortical areas.…”

Section: Amino Acid Metabolism Disordermentioning

confidence: 99%

Gene Therapy for the Treatment of Neurological Disorders: Metabolic Disorders

Gessler

Gao

2016

Methods in Molecular Biology

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Metabolic disorders comprise a large group of heterogeneous diseases ranging from very prevalent diseases such as diabetes mellitus to rare genetic disorders like Canavan Disease. Whether either of these diseases is amendable by gene therapy depends to a large degree on the knowledge of their pathomechanism, availability of the therapeutic gene, vector selection, and availability of suitable animal models. In this book chapter, we review three metabolic disorders of the central nervous system (CNS; Canavan Disease, Niemann–Pick disease and Phenylketonuria) to give examples for primary and secondary metabolic disorders of the brain and the attempts that have been made to use adeno-associated virus (AAV) based gene therapy for treatment. Finally, we highlight commonalities and obstacles in the development of gene therapy for metabolic disorders of the CNS exemplified by those three diseases.

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Radiological Clue to Diagnosis of Canavan Disease

Cited by 8 publications

References 5 publications

Early diagnosis of Canavan syndrome: how can we get there?

Early diagnosis of Canavan syndrome: how can we get there?

Canavan Disease - A Rare Case Report

Gene Therapy for the Treatment of Neurological Disorders: Metabolic Disorders

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