Leukodystrophies: Indian scenario

Bs, Singhal

doi:10.1007/bf02724013

Cited by 25 publications

(17 citation statements)

References 13 publications

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“…This may be associated with low physical activity and high dietary calorie and fat intake . Among neurologic diseases, limb‐girdle muscular dystrophy and megalencephalic leukodystrophy with subcortical cysts are relatively more prevalent among the same ethnic group …”

Section: Discussionmentioning

confidence: 99%

Clinical Characterization of Genetically Diagnosed Cases of Spinocerebellar Ataxia Type 12 from India

Choudhury

Chatterjee

et al. 2017

Movement Disord Clin Pract

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Background: Spinocerebellar ataxia type 12 (SCA12) is a rare form of an autosomal-dominant ataxic disorder associated with an expansion of CAG repeat length. Here, we present a large case series of patients with SCA12 and describe a wide range of typical and rare symptoms. Methods: Twenty-one consecutive patients with genetically proven SCA12 underwent detailed neurological examination. We assessed clinical characteristics using validated rating scales for evaluating motor features in SCA. Nonmotor symptoms and quality of life were assessed using appropriate, validated scales. Correlations of CAG repeat length with both severity score and age of onset were explored. Results: The mean age of onset was 51 years, and most patients were descendants of a single, endogamous Indian community (Agarwal). Tremor was the most common initial presenting symptom (90%). Hand dystonia was present in 14 of 21 patients, and most patients in the cohort presented with gait disturbance. Neuropsychiatric manifestations were common coexisting features. The CAG repeat length was significantly correlated (r = À0.760; P = 0.0001) with early age of onset, but not with disease severity. Tremor affected the quality of life in 18 of 21 patients, because they had difficulty in handling liquids. Conclusions: Tremor was the most common, nonataxic symptom at initial presentation in patients with SCA12. Proximal upper limb tremor, typically with high amplitude and low frequency, can raise a strong diagnostic suspicion. Associated hand dystonia was a common coexisting motor feature. Various nonmotor features were also observed in several cases which require therapeutic attention.

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Section: Discussionmentioning

confidence: 99%

Clinical Characterization of Genetically Diagnosed Cases of Spinocerebellar Ataxia Type 12 from India

Choudhury

Chatterjee

et al. 2017

Movement Disord Clin Pract

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“…The gene pool is expected to be heterogeneous but with pockets of homogeneity because of the general trend of marriages within closed communities. The Agarwal community is a large enterprising community consisting of affluent business-class North Indian population originating from a small town of Agroha, near Delhi and spreading all over the world (Singhal 2005). Genetic studies have suggested founder effect in Agarwals in some other genetic disorders like megalencephalic leukoencephalopathy with subcortical cysts (MLC, OMIM #604004), spinocerebellar ataxia type 12 (OMIM #183090), and pantothenate kinase-associated neurodegeneration (PKAN, OMIM#234200) (Gorospe et al 2004;Bahl et al 2005;Chabbria et al 2007).…”

Section: Discussionmentioning

confidence: 99%

Molecular Diagnosis of Hereditary Fructose Intolerance: Founder Mutation in a Community from India

et al. 2014

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Hereditary fructose intolerance (HFI) is a difficult-to-confirm diagnosis, requiring either invasive liver biopsy-enzyme assay or potentially hazardous fructose challenge test or expensive molecular genetic analysis. Therefore, worldwide there has been a trend towards finding "common mutations" in distinct ethnic groups to simplify the process of diagnosis. The nonspecific presentation of the disease often leads to diagnostic confusion with other metabolic liver disorders such as glycogenoses, galactosemia, and tyrosinemia. This leads to much delay in diagnosis with consequent harm to the patient.We report mutations in the ALDOB gene, from eleven Indian patients, seven of whom belong to the Agarwal community. Six patients from the Agarwal community and two non-Agarwal patients harbored one novel mutation, c.324+1G>A (five homozygous and one heterozygous), in the ALDOB gene. Haplotyping performed in families confirmed a founder effect. The community has been known to harbor founder mutations in other genes such as the MLC1, PANK2, and CAPN3 genes, thus providing another evidence for a founder effect in the community in case of HFI. This may pave the path for a simpler and quicker test at least for this community in India. In addition to the founder mutation, we report four other novel mutations, c.112+1delG, c.380-1G>A, c.677G>A, and c.689delA, and a previously reported mutation, c.1013C>T, in the cohort from India.

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“…Singhal BS in his paper states that commonest leukodystrophy seen in India is Megalencephalic Leukodystrophy with sub-cortical cysts[7]; seen more in the Agarwal community in India.…”

Section: Discussionmentioning

confidence: 99%

Childhood adrenoleukodystrophy - Classic and variant - Review of clinical manifestations and magnetic resonance imaging

et al. 2013

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Adrenoleukodystrophy (ALD) is a genetic disease associated with demyelination of the central nervous system, adrenal insufficiency, and accumulation of very long-chain fatty acids in tissue and body fluids. The attempt of this paper is to review the classical and not-so-classical MR imaging manifestations of adrenoleukodystrophy. A review of literature is done to describe the pathophysiology of the disease and the imaging differences between childhood and adult-onset of the disease. The literature is reviewed to explain the link with Addison's disease. In consensus the magnetic resonance imaging (MRI) findings of symmetrical occipital white matter lesions which progress in a rostro-caudal direction is the classical appearance of ALD. Familiarity with the clinico-pathologic manifestations and progressive MR imaging features of childhood cerebral X-linked ALD will be helpful in evaluating the affected patients.

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Leukodystrophies: Indian scenario

Cited by 25 publications

References 13 publications

Clinical Characterization of Genetically Diagnosed Cases of Spinocerebellar Ataxia Type 12 from India

Clinical Characterization of Genetically Diagnosed Cases of Spinocerebellar Ataxia Type 12 from India

Molecular Diagnosis of Hereditary Fructose Intolerance: Founder Mutation in a Community from India

Childhood adrenoleukodystrophy - Classic and variant - Review of clinical manifestations and magnetic resonance imaging

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