Spinocerebellar ataxia type 7: Report of an Indian family

Wali, Gautam

doi:10.4103/0972-2327.120455

Cited by 4 publications

(5 citation statements)

References 12 publications

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“…Ahn et al described a bull's eye macular configuration with FA in one patient [32]. This was not the case for a patient with foveal thinning at SDOCT, described by Park et al, where fundus examination, FA, and FAF were normal [29]. In examining patient 3 in our case series, we reported NIR images that highlighted areas of granular retinal appearance that were not visible with CFP and showed hyperreflective foveae in both eyes.…”

Section: Discussioncontrasting

confidence: 48%

“…In 2002, Aleman et al were among the first to present the SDOCT characteristics of three patients with SCA7, describing foveal and parafoveal thinning with an abnormally low reflectivity splitting of the outer retina-choroidal complex [22]. Other authors, including Park et al, later confirmed these findings, describing foveal thinning with focal disruption of the ellipsoid zone and central loss of the outer segment-RPE interdigitation zone [29]. In 2021, Zou et al described the presence of hyperreflective dots as a common finding in outer retinal and choroidal vessel layers.…”

Section: Discussionmentioning

confidence: 97%

“…As SCA7 patients have significant foveal disruption, visual field examinations reflect this with the presence of commonly described central scotomas [14,16,18,27,29]. Miller et al performed visual field analysis on eight patients; only one had a normal Humphrey visual field, three had generalized depression, and four presented a central scotoma [20].…”

Section: Discussionmentioning

confidence: 99%

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Multimodal Ophthalmic Imaging in Spinocerebellar Ataxia Type 7

Ciancimino,

Di Pippo,

Manco

et al. 2023

Life

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The aim of this case series and narrative literature review is to highlight the importance of multimodal imaging in the ophthalmological examination of patients with spinocerebellar ataxia type 7 and provide a summary of the most relevant imaging techniques. Three patients with SCA7 were included in this case series. A literature review revealed twenty-one publications regarding ocular manifestations of SCA7, and the most relevant aspects are summarized. The role of different imaging techniques in the follow-up of SCA7 patients is analyzed, including color vision testing, corneal endothelial topography, color fundus photography (CFP) and autofluorescence, near infrared reflectance imaging, spectral domain optical coherence tomography (SDOCT), visual field examination, and electrophysiological tests. SDOCT provides a rapid and non-invasive imaging evaluation of disease progression over time. Additional examination including NIR imaging can provide further information on photoreceptor alteration and subtle disruption of the RPE, which are not evident with CFP at an early stage. Electrophysiological tests provide essential results on the state of cone and rod dystrophy, which could be paramount in guiding future genetic therapies. Multimodal imaging is a valuable addition to comprehensive ophthalmological examination in the diagnosis and management of patients with SCA7.

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Section: Discussioncontrasting

confidence: 48%

Section: Discussionmentioning

confidence: 97%

Section: Discussionmentioning

confidence: 99%

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Multimodal Ophthalmic Imaging in Spinocerebellar Ataxia Type 7

Ciancimino,

Di Pippo,

Manco

et al. 2023

Life

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“…Wali et al, 2013* [79] Belgaum region of Northern Karnataka, Southern India [81] Adukkamparai village in Vellore, India 100 37 --------Faruq et al, 2015 [50] Haryana (a state in Northern India)…”

Section: Discussionmentioning

confidence: 99%

Genetics of Ataxias in Indian Population: A Collative Insight from a Common Genetic Screening Tool

Sharma

Sonakar²,

Tyagi

et al. 2022

Advanced Genetics

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Cerebellar ataxias (CAs) represent a group of autosomal dominant and recessive neurodegenerative disorders affecting cerebellum with or without spinal cord. Overall, CAs have preponderance for tandem nucleotide repeat expansions as an etiological factor (10 TREs explain nearly 30–40% of ataxia cohort globally). The experience of 10 years of common genetic ataxia subtypes for ≈5600 patients’ referrals (Pan‐India) received at a single center is shared herein. Frequencies (in %, n) of SCA types and FRDA in the sample cohort are observed as follows: SCA12 (8.6%, 490); SCA2 (8.5%, 482); SCA1 (4.8%, 272); SCA3 (2%, 113); SCA7 (0.5%, 28); SCA6 (0.1%, 05); SCA17 (0.1%, 05), and FRDA (2.2%, 127). A significant amount of variability in TRE lengths at each locus is observed, we noted presence of biallelic expansion, co‐occurrence of SCA‐subtypes, and the presence of premutable normal alleles. The frequency of mutated GAA‐FRDA allele in healthy controls is 1/158 (0.63%), thus an expected FRDA prevalence of 1:100 000 persons. The data of this study are relevant not only for clinical decision making but also for guidance in direction of genetic investigations, transancestral comparison of genotypes, and lastly provide insight for policy decision for the consideration of SCAs under rare disease category.

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“…Voxel‐based morphometry, diffusion tensor imaging, and magnetic resonance spectroscopy show promise in detecting early changes in other ataxias, and they will likely be instructive for SCA7 as well. It remains to be shown whether early findings on imaging correlate with preclinical findings such as hyperreflexia, abnormal ERG, or perhaps ocular coherence tomography (eg, Wali) to detect the transition from phenotypically normal individuals, to those who are clinically normal but physiologically abnormal. Furthermore, it remains to be seen how these potential biomarkers will further refine the rating scales for ataxia.…”

Section: Discussionmentioning

confidence: 99%