scholarly journals Autosomal Dominant Gyrate Atrophy-Like Choroidal Dystrophy Revisited: 45 Years Follow-Up and Association with a Novel C1QTNF5 Missense Variant

2021 ◽  
Vol 22 (4) ◽  
pp. 2089
Author(s):  
Ulrich Kellner ◽  
Nicole Weisschuh ◽  
Silke Weinitz ◽  
Ghazaleh Farmand ◽  
Sebastian Deutsch ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Late Onset ◽  
Three Dimensional ◽  
Missense Variant ◽  
Clinical Aspects ◽  
Gyrate Atrophy ◽  
Three Dimensional Modeling ◽  
Long Term Follow Up ◽  
The Stability

We present a long-term follow-up in autosomal dominant gyrate atrophy-like choroidal dystrophy (adGALCD) and propose a possible genotype/phenotype correlation. Ophthalmic examination of six patients from two families revealed confluent areas of choroidal atrophy resembling gyrate atrophy, starting in the second decade of life. Progression continued centrally, reaching the fovea at about 60 years of age. Subretinal deposits, retinal pigmentation or choroidal neovascularization as seen in late-onset retinal degeneration (LORD) were not observed. Whole genome sequencing revealed a novel missense variant in the C1QTNF5 gene (p.(Q180E)) which was found in heterozygous state in all affected subjects. Haplotype analysis showed that this variant found in both families is identical by descent. Three-dimensional modeling of the possible supramolecular assemblies of C1QTNF5 revealed that the p.(Q180E) variant led to the destabilization of protein tertiary and quaternary structures, affecting both the stability of the single protomer and the entire globular head, thus exerting detrimental effects on the formation of C1QTNF5 trimeric globular domains and their interaction. In conclusion, we propose that the p.(Q180E) variant causes a specific phenotype, adGALCD, that differs in multiple clinical aspects from LORD. Disruption of optimal cell-adhesion mechanisms is expected when analyzing the effects of the point mutation at the protein level.

scholarly journals A rare triad of morning glory disc anomaly, moyamoya vasculopathy, and transsphenoidal cephalocele: pathophysiological considerations and surgical management

2021 ◽  
Author(s):  
Marco Pavanello ◽  
Pietro Fiaschi ◽  
Andrea Accogli ◽  
Mariasavina Severino ◽  
Domenico Tortora ◽  
...  
Keyword(s):  
Surgical Management ◽  
Missense Variant ◽  
Morning Glory ◽  
Morning Glory Disc Anomaly ◽  
Long Term Follow Up ◽  
Indirect Revascularization ◽  
Peripapillary Retina

AbstractMorning glory disc anomaly is a congenital abnormality of the optic disc and peripapillary retina reported as an isolated condition or associated with various anomalies, including basal encephaloceles and moyamoya vasculopathy. However, the co-occurrence of these three entities is extremely rare and the pathogenesis is still poorly understood. Moreover, data on the surgical management and long-term follow-up of the intracranial anomalies are scarce. Here, we describe the case of a 11-year-old boy with morning glory disc anomaly, transsphenoidal cephalocele, and moyamoya vasculopathy, who underwent bilateral indirect revascularization with encephalo-duro-myo-arterio-pericranio-synangiosis at the age of 2 years, and endoscopic repair of the transsphenoidal cephalocele at the age of 6 years. A rare missense variant (c.1081T>C,p.Tyr361His) was found in OFD1, a gene responsible for a X-linked ciliopathy, the oral-facial-digital syndrome type 1 (OFD1; OMIM 311200). This case expands the complex phenotype of OFD1 syndrome and suggests a possible involvement of OFD1 gene and Shh pathway in the pathogenesis of these anomalies.

scholarly journals Long-term follow-up until early adulthood in autosomal dominant, complex SPG30 with a novel KIF1A variant: a case report

2019 ◽  
Vol 45 (1) ◽  
Author(s):  
Carlotta Spagnoli ◽  
Susanna Rizzi ◽  
Grazia Gabriella Salerno ◽  
Daniele Frattini ◽  
Carlo Fusco
Keyword(s):  
Autosomal Dominant ◽  
De Novo ◽  
Current Knowledge ◽  
Brain Mri ◽  
Early Adulthood ◽  
Cerebellar Atrophy ◽  
Mild Intellectual Disability ◽  
Long Term Follow Up

Abstract Background Pathogenic variants in KIF1A (kinesin family member 1A) gene have been associated with hereditary spastic paraplegia (HSP) type 30 (SPG30), encopassing autosomal dominant and recessive, pure and complicated forms. Case presentation We report the long-term follow-up of a 19 years-old boy first evaluated at 18 months of age because of toe walking and unstable gait with frequent falls. He developed speech delay, mild intellectual disability, a slowly progressive pyramidal syndrome, microcephaly, bilateral optic subatrophy and a sensory axonal polyneuropathy. Brain MRI showed cerebellar atrophy, stable along serial evaluations (last performed at 18 years of age). Targeted NGS sequencing disclosed the de novo c.914C > T missense, likely pathogenic variant on KIF1A gene. Conclusions We report on a previously unpublished de novo heterozygous likely pathogenic KIF1A variant associated with slowly progressive complicated SPG30 and stable cerebellar atrophy on long-term follow-up, adding to current knowledge on this HSP subtype.

Long-Term Follow-Up of Patients with Sick Sinus Syndrome: A Comparison of Clinical Aspects Among Unpaced, Ventricular Inhibited Paced, and Physiologically Paced Groups

1988 ◽  
Vol 11 (11) ◽  
pp. 1575-1583 ◽  
Author(s):  
YASUYUKI SASAKI ◽  
MASAHIRO SHIMOTORI ◽  
KUNIO AKAHANE ◽  
HIROAKI YONEKURA ◽  
KEN HIRANO ◽  
...  
Keyword(s):  
Sick Sinus Syndrome ◽  
Clinical Aspects ◽  
Long Term Follow Up

Late onset hypothyroidism after subtotal thyroidectomy for hyperthyroidism: Implications for long term follow-up

1983 ◽  
Vol 70 (12) ◽  
pp. 740-743 ◽  
Author(s):  
A. J. Hedley ◽  
P. D. Bewsher ◽  
S. J. Jones ◽  
A. S. M. Khir ◽  
P. Clements ◽  
...  
Keyword(s):  
Late Onset ◽  
Subtotal Thyroidectomy ◽  
Long Term Follow Up

Benign Paroxysmal Vertigo of Childhood: A Long-Term Follow-Up

Cephalalgia ◽  
1994 ◽  
Vol 14 (6) ◽  
pp. 458-460 ◽  
Author(s):  
G Lanzi ◽  
U Balottin ◽  
E Fazzi ◽  
M Tagliasacchi ◽  
M Manfrin ◽  
...  
Keyword(s):  
Differential Diagnosis ◽  
Age Of Onset ◽  
Clinical Aspects ◽  
Migrainous Vertigo ◽  
Long Term Follow Up

We examined clinical aspects of Benign Paroxysmal Vertigo (BPV) in infancy and its most frequent differential diagnosis, in particular analogies and differences with forms of “migrainous vertigo” (MV) of later onset. During a long-term follow-up of 7 cases of BPV, diagnosed according to the Basser criteria, 5 of 7 BPV cases spontaneously resolved and 6 of 7 patients later developed migraine and other migraine-related symptoms. This course differs from that described for MV only in the age of onset of headache and in the chronological relationship with vertigo. The authors suggest that BPV can be interpreted as a migraine precursor and MV as a migraine equivalent.

scholarly journals Tissue is the issue: when a second biopsy reveals the true diagnosis

2019 ◽  
Author(s):  
Anne-Marie Bogaert ◽  
Anne Hoorens ◽  
Marleen Praet ◽  
Jo Van Dorpe ◽  
Bruce Poppe ◽  
...  
Keyword(s):  
Kidney Biopsy ◽  
Late Onset ◽  
Immunosuppressive Treatment ◽  
Treatment Strategies ◽  
Nephrotic Proteinuria ◽  
Long Term Follow Up ◽  
Generation Sequencing ◽  
Genetic Form

Abstract We describe the case of a woman with minimal glomerular changes on initial kidney biopsy. On long-term follow-up, the patient developed nephrotic proteinuria and a second kidney biopsy was performed, which revealed focal segmental glomerulosclerosis (FSGS). Findings from electron microscopy (EM) examination suggested a genetic form of FSGS. Next-generation sequencing showed heterozygosity for a mutation in COL4A3. Collagen IV nephropathies can be linked to late-onset FSGS. By establishing a genetic cause of FSGS, immunosuppressive treatment can be avoided. This case emphasizes the importance of re-biopsy in cases of a non-explained rise in proteinuria. EM can be helpful in differentiating between primary and secondary FSGS and informing treatment strategies. In cases of adult-onset FSGS that cannot be categorized by clinical–pathological assessment, genetic testing should be considered.

Long-term follow-up studies confirm the stability of the latent reservoir for HIV-1 in resting CD4+ T cells

10.1038/nm880 ◽  
2003 ◽  
Vol 9 (6) ◽  
pp. 727-728 ◽  
Author(s):  
Janet D Siliciano ◽  
Joleen Kajdas ◽  
Diana Finzi ◽  
Thomas C Quinn ◽  
Karen Chadwick ◽  
...  
Keyword(s):  
T Cells ◽  
Cd4 T Cells ◽  
Latent Reservoir ◽  
Follow Up Studies ◽  
Long Term Follow Up ◽  
The Stability ◽  
Hiv 1
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