scholarly journals Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) in a Thai Patient: The Classic Clinical Manifestations, Funduscopic Feature, and Brain Imaging Findings with a Novel Mutation in the SACS Gene

2020 ◽  
Vol 10 (0) ◽  
pp. 1 ◽  
Author(s):  
Jindapa Srikajon ◽  
Yuvadee Pitakpatapee ◽  
Chanin Limwongse ◽  
Niphon Chirapapaisan ◽  
Prachaya Srivanitchapoom
Keyword(s):  
Brain Imaging ◽  
Autosomal Recessive ◽  
Novel Mutation ◽  
Clinical Manifestations ◽  
Imaging Findings ◽  
Thai Patient ◽  
Spastic Ataxia

Discrepancy Between the Degree of Cognitive Impairment and Brain Imaging Abnormalities in Alzheimer’s Disease Patients Is Associated with Cognitive Reserve

2021 ◽  
pp. 1-9
Author(s):  
Tomohiko Sato ◽  
Haruo Hanyu ◽  
Yumi Koyama ◽  
Haruka Horita ◽  
Toshinori Aoki ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Cognitive Impairment ◽  
Brain Imaging ◽  
Cognitive Reserve ◽  
Photon Emission ◽  
Clinical Manifestations ◽  
Leisure Activity ◽  
Emission Computed Tomography ◽  
Imaging Findings

Background: In Alzheimer’s disease (AD) patients, the severity of cognitive impairment is thought to correlate with the degree of brain imaging abnormalities. However, some patients show only mild cognitive deficit, despite severe brain atrophy on magnetic resonance imaging (MRI) or marked hypoperfusion in the cerebral cortices on single-photon emission computed tomography (SPECT). This suggests that cognitive reserve (CR) can compensate for the clinical manifestations of AD in patients with extensive brain pathology. Objective: We aimed to determine whether this discrepancy between cognitive and imaging findings is associated with CR. Methods: Factors associated with the discrepancy between the degree of cognitive impairment and MRI (medial temporal lobe atrophy) and SPECT (posterior cerebral hypoperfusion) findings were analyzed in 135 patients with probable AD. Factors as proxies for CR included education, occupation, leisure activity, comorbidities, frailty, and other demographics. The discrepancy index (DI) was calculated as the difference between the degree of imaging abnormalities and the degree of cognitive dysfunction. Results: Multiple regression analysis showed that leisure activity and education were significantly associated with the discrepancy between cognitive and imaging findings. When the level of CR was determined based on leisure activity and education, the high-CR group showed a significantly larger DI than the moderate- and low-CR groups. Conclusion: The discrepancy between cognitive and imaging findings in patients with AD is associated with CR, measured using a combination of two indicators, i.e., leisure activity and education. Therefore, lifestyle interventions may delay the appearance of clinical symptoms resulting from underlying AD pathology, by increasing CR.

scholarly journals Multi-imaging study in a patient with cerebrotendinous xanthomatosis: radiology, clinic and pathology correlation of a rare condition

2020 ◽  
Vol 6 (1) ◽  
pp. 20190047
Author(s):  
Giuseppina Dell'Aversano Orabona ◽  
Clemente Dato ◽  
Mariano Oliva ◽  
Lorenzo Ugga ◽  
Maria Teresa Dotti ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Clinical Manifestations ◽  
Imaging Study ◽  
Rare Condition ◽  
Autosomal Recessive Inheritance ◽  
Acid Synthesis ◽  
Cerebrotendinous Xanthomatosis ◽  
Imaging Findings ◽  
Cholic Acids ◽  
Ct And Mri

Cerebrotendinous xanthomatosis (CTX) is a rare metabolic disease with autosomal recessive inheritance. It is caused by mutations of the CYP27A1 gene, which codifies for sterol 27-hydroxylase, an enzyme that is responsible for the synthesis of cholic acids. In CTX, cholic acid synthesis is impaired, leading to accumulation of the precursor chenodessossicholic acid) in various organs and tissues. The clinical manifestations of CTX include chronic diarrhea, early-onset cataracts, tendon xanthomas and neurological disturbances. Therapy with oral chenodessossicholic acid has been shown to provide significantly better outcomes for affected individuals; therefore, recognition of this disease and awareness of its suggestive instrumental signs is extremely important. In this study, we describe the imaging findings in a 43-years-old male who was diagnosed with CTX and studied through ultrasound, CT and MRI. It is important that the neurology and radiology communities are aware of this multi-imaging findings: recognition of them is important, as due to the high variability of the manifestation of this disease; it could impact on early diagnosis of a condition rarely seen, but manageable.

scholarly journals Galactosialidosis in a newborn with a novel mutation in the CTSA gene presenting with transient hyperparathyroidism

2017 ◽  
Vol 20 (2) ◽  
pp. 95-97
Author(s):  
E Okulu ◽  
G Tunc ◽  
T Eminoglu ◽  
O Erdeve ◽  
B Atasay ◽  
...  
Keyword(s):  
Lysosomal Storage Disease ◽  
Autosomal Recessive ◽  
Storage Disease ◽  
Age Of Onset ◽  
Novel Mutation ◽  
Clinical Manifestations ◽  
Inherited Disease ◽  
Lysosomal Storage ◽  
Loss Of Function ◽  
Infantile Form

Abstract Galactosialidosis is a lysosomal storage disease caused by deficiency of protective protein that is encoded by the cathepsin A (CTSA) gene localized on chromosome 20q13.1. Mutations of this gene are the cause of galactosialidosis that result in loss of function of protective protein. Galactosialidosis is an autosomal recessive inherited disease and has been divided into three subtypes based on age of onset and the severity of clinical manifestations. We report an early infantile form of galactosialidosis in a newborn with a novel mutation on the CTSA gene.

Novel mutation ofSACSgene in a Spanish family with autosomal recessive spastic ataxia

2005 ◽  
Vol 20 (10) ◽  
pp. 1358-1361 ◽  
Author(s):  
Chiara Criscuolo ◽  
Francesco Saccà ◽  
Giuseppe De Michele ◽  
Pietro Mancini ◽  
Onofre Combarros ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Novel Mutation ◽  
Spastic Ataxia ◽  
Spanish Family

A novel mutation (86insA) in the alpha-sarcoglycan-gene leads to severe childhood autosomal recessive muscular dystrophy

2004 ◽  
Vol 35 (01) ◽  
Author(s):  
GP Ramelli ◽  
F Joncourt ◽  
M Gasparini ◽  
P Tonin
Keyword(s):  
Muscular Dystrophy ◽  
Autosomal Recessive ◽  
Novel Mutation

Papillon-Lefevre Syndrome: Challenge for Periodontal Management

2019 ◽  
Vol 3 (2) ◽  
pp. 84-86
Author(s):  
Krishna Prasad Lamichhane ◽  
Shaili Pradhan ◽  
Ranjita Shreshta Gorkhali ◽  
Pramod Kumar Koirala
Keyword(s):  
Significant Role ◽  
Autosomal Recessive ◽  
Clinical Manifestations ◽  
Autosomal Recessive Disorder ◽  
Genetic Mutations ◽  
Rare Autosomal Recessive Disorder ◽  
Diagnosis And Management ◽  
Periodontal Destruction ◽  
Palmoplantar Keratosis

Papillon-Lefèvre syndrome (PLS) is a rare autosomal recessive disorder associated with rapidly progressing periodontitis leading to premature loss of deciduous and permanent dentition and diffuse palmoplantar keratosis. Immunologic alterations, genetic mutations, and role of bacteria are some aetiologic factors. Patients present with early periodontal destruction, so periodontists play a significant role in diagnosis and management. This paper reports a case of Papillon- Lefevre syndrome with its clinical manifestations and challenges for periodontal management which was diagnosed in dental department.

scholarly journals Animal Models of Autosomal Recessive Parkinsonism

Biomedicines ◽  
2021 ◽  
Vol 9 (7) ◽  
pp. 812
Author(s):  
Guendalina Bastioli ◽  
Maria Regoni ◽  
Federico Cazzaniga ◽  
Chiara Maria Giulia De Luca ◽  
Edoardo Bistaffa ◽  
...  
Keyword(s):  
Animal Models ◽  
Sleep Disturbances ◽  
Autosomal Recessive ◽  
Clinical Manifestations ◽  
Cognitive Disorders ◽  
Dopamine Neurons ◽  
Substantia Nigra Pars Compacta ◽  
Current Status ◽  
Unknown Etiology ◽  
Neuron Death

Parkinson’s disease (PD) is the most common neurodegenerative movement disorder. The neuropathological hallmark of the disease is the loss of dopamine neurons of the substantia nigra pars compacta. The clinical manifestations of PD are bradykinesia, rigidity, resting tremors and postural instability. PD patients often display non-motor symptoms such as depression, anxiety, weakness, sleep disturbances and cognitive disorders. Although, in 90% of cases, PD has a sporadic onset of unknown etiology, highly penetrant rare genetic mutations in many genes have been linked with typical familial PD. Understanding the mechanisms behind the DA neuron death in these Mendelian forms may help to illuminate the pathogenesis of DA neuron degeneration in the more common forms of PD. A key step in the identification of the molecular pathways underlying DA neuron death, and in the development of therapeutic strategies, is the creation and characterization of animal models that faithfully recapitulate the human disease. In this review, we outline the current status of PD modeling using mouse, rat and non-mammalian models, focusing on animal models for autosomal recessive PD.

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