Neurodegeneration with brain iron accumulation: a case series highlighting phenotypic and genotypic diversity in 20 Indian families

Sait, Haseena; Srivastava, Somya; Pandey, Manmohan Krishna; Ravichandran, Deepak; Shukla, Anju; Mandal, Kausik; Saxena, Deepti; Shambhavi, Arya; Majethia, Purvi; Rao, Lakshmi Priya; Sharma, Suvasini; Phadke, Shubha R.; Moirangthem, Amita

doi:10.1007/s10048-023-00712-0

Neurogenetics

2023

DOI: 10.1007/s10048-023-00712-0

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Neurodegeneration with brain iron accumulation: a case series highlighting phenotypic and genotypic diversity in 20 Indian families

Haseena Sait

Somya Srivastava

Manmohan Krishna Pandey

et al.

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Cited by 2 publications

References 34 publications

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Drug target genes and molecular mechanism investigation in isoflurane-induced anesthesia based on WGCNA and machine learning methods

Yuan,

Yang,

Han

et al. 2023

Toxicology Mechanisms and Methods

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Drug target genes and molecular mechanism investigation in isoflurane-induced anesthesia based on WGCNA and machine learning methods

Yuan,

Yang,

Han

et al. 2023

Toxicology Mechanisms and Methods

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Functional impairments in NBIA patients: Preliminary results

Syczewska,

Stęplowska,

Szczerbik

et al. 2024

IRDR

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Neurodegeneration with brain iron accumulation (NBIA) is a heterogeneous group (genetically and phenotypically) of genetically determined disorders. Up to date there is no cure for this disease, so the applied treatments focus on symptoms control and palliative care. The main problems are delayed motor development, gait deterioration, postural instability, cognitive dysfunctions, abnormal muscle tone and many others. As gait and balance deficits are predominant features of NBIA patients this study aimed at the use of the objective, instrumented functional tests as well as functional assessment scales to assess their functional impairments. Twenty three NBIA patients recruited for the study underwent objective, instrumented gait analysis, balance assessment, pedobarography and functional evaluation with Gross Motor Function Measure (GMFM-88). The results showed high variability and heterogeneity of NBIA functional status (GMFM from 27.5 to 100.0), but also showed some differences in gait pattern between their types (p < 0.05 at the pelvis, hip and knee). We think that these results could help design objective assessment protocols in future clinical studies.

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Neurodegeneration with brain iron accumulation: a case series highlighting phenotypic and genotypic diversity in 20 Indian families

Cited by 2 publications

References 34 publications

Drug target genes and molecular mechanism investigation in isoflurane-induced anesthesia based on WGCNA and machine learning methods

Drug target genes and molecular mechanism investigation in isoflurane-induced anesthesia based on WGCNA and machine learning methods

Functional impairments in NBIA patients: Preliminary results

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