scholarly journals Visual and ocular motor function in the atypical form of neurodegeneration with brain iron accumulation type I

2017 ◽  
Vol 102 (1) ◽  
pp. 102-108
Author(s):  
Joana Jesus-Ribeiro ◽  
Cláudia Farinha ◽  
Margarida Amorim ◽  
Anabela Matos ◽  
Aldina Reis ◽  
...  
Keyword(s):  
Motor Function ◽  
Age Of Onset ◽  
Iron Accumulation ◽  
Type I ◽  
Ophthalmological Examination ◽  
Ocular Motor ◽  
Brain Iron ◽  
Ocular Fixation ◽  
Atypical Form ◽  
Atypical Variant

Background/aimsNeurodegeneration with brain iron accumulation (NBIA) type I is a rare disease that can be divided into a classical or atypical variant, according to age of onset and clinical pattern. Neuro-ophthalmological involvement has been documented in the classical variant but only anecdotically in the atypical variant. We sought to describe the visual and ocular motor function in patients with atypical form of NBIA type I.MethodsCross-sectional study, including patients with genetically confirmed NBIA type I and classified as atypical variant, who underwent ophthalmological examination with best corrected visual acuity (BCVA), optical coherence tomography (OCT), fundus autofluorescence (FAF), electroretinography (ERG), visual evoked potentials (VEP) and video-oculography.ResultsSeven patients with a mean BCVA of 0.12±0.14 logMAR were included. Only two patients showed structural evidence of advanced retinopathy in OCT and FAF, and there were no cases of optic atrophy. ERG data, however, showed abnormal scotopic and/or photopic responses in all patients. VEP were normal in all three patients. Ocular fixation was markedly unstable (eg, increased rate of saccadic pulses) in the majority of patients (5). Additional mild ocular motor disturbances included low gain pursuit (2), hypermetric saccades (1), low gain optokinetic (2) and caloric and rotatory responses (3).ConclusionFunctional retinal changes associated with marked instability of ocular fixation should be included in the clinical spectrum of NBIA, particularly in the atypical form.

Subthalamic and pallidal oscillatory activity in patients with Neurodegeneration with Brain Iron Accumulation type I (NBIA-I)

2019 ◽  
Vol 130 (4) ◽  
pp. 469-473 ◽  
Author(s):  
Julius Huebl ◽  
Anahita Poshtiban ◽  
Christof Brücke ◽  
Sandy Siegert ◽  
Antje Bock ◽  
...  
Keyword(s):  
Iron Accumulation ◽  
Oscillatory Activity ◽  
Type I ◽  
Brain Iron

scholarly journals Gross Motor Function of A Child With Neurodegeneration With Brain Iron Accumulation (NBIA)

2013 ◽  
Vol 21 (4) ◽  
pp. 574-579
Author(s):  
Rubia do Nascimento Fuentefria ◽  
Franciane Barbieri Fiório ◽  
Daniela Sposito Dias ◽  
Alexandre Meneghello Fuentefria
Keyword(s):  
Clinical Diagnosis ◽  
Motor Function ◽  
Functional Performance ◽  
Standing Position ◽  
Iron Accumulation ◽  
Brain Iron ◽  
Mri Findings ◽  
Gross Motor ◽  
Gross Motor Function ◽  
Extrapyramidal Signs

Introduction. Neurodegeneration with brain iron accumulation (NBIA) involves a group of progressive extrapyramidal disorders characterised by iron accumulation in the brain. Objective. to de­scribe the gross motor function of a child with clinical diagnosis of NBIA. Method. This is a case report involving a 7-year-old child and clinical diagnosis of NBIA. This study evaluated the history of the disease and the neuromotor functions of the child using a neurological physiotherapy evaluation form. The GMFM - Gross Motor Function Measure, a system of quantitative assessment of gross motor function in five broad dimensions, was applied. Case Presentation. Magnetic resonance imaging (MRI) showed the eye-of-the-tiger sign in the me­dial globus pallidus. Clinical examination presented extrapyramidal signs like dystonia, choreoathetosis, dysarthria and visual impairment. In this case, the combination of clinical and MRI findings was con­sistent with NBIA. Results. In the A dimension (down and roll) of GMFM, the child achieve a score of 39 points (76% of the gross mo­tor function); in the B dimension (sit) she achieve a total score of 60 points (30% of the function); in the C dimension (crawl and kneel) she achieve a score of 1 point (2% of the function); in the D dimen­sion (standing position) and in the E dimension (walk, run and jump) she did not score in any item. Conclusion. The significant deficit in proximal stability and frequent extensor dystonic spasms affected the child’s functional performance.

Gross Motor Function of A Child With Neurodegeneration With Brain Iron Accumulation (NBIA)

2014 ◽  
Vol 21 (04) ◽  
pp. 574-579
Author(s):  
Rubia Fuentefria ◽  
Franciane Fiório ◽  
Daniela Dias ◽  
Alexandre Fuentefria
Keyword(s):  
Motor Function ◽  
Iron Accumulation ◽  
Brain Iron ◽  
Gross Motor ◽  
Gross Motor Function

Neurodegeneration with brain iron accumulation type 4 by mutation in the C19orf12 gene: first time found in adolescent of Russian origin

2013 ◽  
Vol 44 (02) ◽  
Author(s):  
E Giagkou ◽  
S Lutz ◽  
U Schara ◽  
K Becker ◽  
C Möller-Hartmann
Keyword(s):  
Iron Accumulation ◽  
Brain Iron ◽  
First Time

Psychotic Disorder in Neurodegeneration with Brain Iron Accumulation

2016 ◽  
Vol 10 (3) ◽  
pp. 178-180
Author(s):  
Menekse Sila Yazar ◽  
Nurhan Fistikci ◽  
Ozlem Devrim Balaban ◽  
Nezih Eradamlar ◽  
Latif Alpkan
Keyword(s):  
Psychotic Disorder ◽  
Iron Accumulation ◽  
Brain Iron

scholarly journals Novel deep intronic mutation in PLA2G6 causing early-onset Parkinson’s disease with brain iron accumulation through pseudo-exon activation

Neurogenetics ◽  
2021 ◽  
Author(s):  
Chiara Cavestro ◽  
Celeste Panteghini ◽  
Chiara Reale ◽  
Alessia Nasca ◽  
Silvia Fenu ◽  
...  
Keyword(s):  
Early Onset ◽  
Cerebellar Atrophy ◽  
Iron Accumulation ◽  
Brain Iron ◽  
Causative Gene ◽  
Coding Regions ◽  
Aberrant Transcript ◽  
Pathogenic Variants ◽  
Intronic Mutation ◽  
Mrna Analysis

AbstractPLA2G6 is the causative gene for a group of autosomal recessive neurodegenerative disorders known as PLA2G6-associated neurodegeneration (PLAN). We present a case with early-onset parkinsonism, ataxia, cognitive decline, cerebellar atrophy, and brain iron accumulation. Sequencing of PLA2G6 coding regions identified only a heterozygous nonsense variant, but mRNA analysis revealed the presence of an aberrant transcript isoform due to a novel deep intronic variant (c.2035-274G > A) leading to activation of an intronic pseudo-exon. These results expand the genotypic spectrum of PLAN, showing the paramount importance of detecting possible pathogenic variants in deep intronic regions in undiagnosed patients.

scholarly journals Rare Gain-of-Function KCND3 Variant Associated with Cerebellar Ataxia, Parkinsonism, Cognitive Dysfunction, and Brain Iron Accumulation

2021 ◽  
Vol 22 (15) ◽  
pp. 8247
Author(s):  
Cheng-Tsung Hsiao ◽  
Thomas F. Tropea ◽  
Ssu-Ju Fu ◽  
Tanya M. Bardakjian ◽  
Pedro Gonzalez-Alegre ◽  
...  
Keyword(s):  
Cerebellar Ataxia ◽  
Iron Accumulation ◽  
Molecular Spectra ◽  
Loss Of Function ◽  
Brain Iron ◽  
Gain Of Function ◽  
Progressive Cerebellar Ataxia ◽  
Voltage Dependent ◽  
Window Current

Loss-of-function mutations in the KV4.3 channel-encoding KCND3 gene are linked to neurodegenerative cerebellar ataxia. Patients suffering from neurodegeneration associated with iron deposition may also present with cerebellar ataxia. The mechanism underlying brain iron accumulation remains unclear. Here, we aim to ascertain the potential pathogenic role of KCND3 variant in iron accumulation-related cerebellar ataxia. We presented a patient with slowly progressive cerebellar ataxia, parkinsonism, cognitive impairment, and iron accumulation in the basal ganglia and the cerebellum. Whole exome sequencing analyses identified in the patient a heterozygous KCND3 c.1256G>A (p.R419H) variant predicted to be disease-causing by multiple bioinformatic analyses. In vitro biochemical and immunofluorescence examinations revealed that, compared to the human KV4.3 wild-type channel, the p.R419H variant exhibited normal protein abundance and subcellular localization pattern. Electrophysiological investigation, however, demonstrated that the KV4.3 p.R419H variant was associated with a dominant increase in potassium current amplitudes, as well as notable changes in voltage-dependent gating properties leading to enhanced potassium window current. These observations indicate that, in direct contrast with the loss-of-function KCND3 mutations previously reported in cerebellar ataxia patients, we identified a rare gain-of-function KCND3 variant that may expand the clinical and molecular spectra of neurodegenerative cerebellar disorders associated with brain iron accumulation.

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