scholarly journals Incidence and Geographic Distribution of Succinic Semialdehyde Dehydrogenase (SSADH) Deficiency

2016 ◽  
pp. 111-115 ◽  
Author(s):  
Savita Verma Attri ◽  
Pratibha Singhi ◽  
Natrujee Wiwattanadittakul ◽  
Jyotindra N. Goswami ◽  
Naveen Sankhyan ◽  
...  
Keyword(s):  
Geographic Distribution ◽  
Succinic Semialdehyde ◽  
Succinic Semialdehyde Dehydrogenase ◽  
Semialdehyde Dehydrogenase ◽  
Ssadh Deficiency

scholarly journals Magnetic Resonance Imaging (MRI) and Spectroscopy in Succinic Semialdehyde Dehydrogenase Deficiency

2021 ◽  
pp. 088307382199129
Author(s):  
Onur Afacan ◽  
Edward Yang ◽  
Alexander P. Lin ◽  
Eduardo Coello ◽  
Melissa L. DiBacco ◽  
...  
Keyword(s):  
Magnetic Resonance Imaging ◽  
Magnetic Resonance ◽  
Mr Spectroscopy ◽  
Succinic Semialdehyde ◽  
Resonance Imaging ◽  
Succinic Semialdehyde Dehydrogenase ◽  
Semialdehyde Dehydrogenase ◽  
Magnetic Resonance Imaging Mri ◽  
Brain Gaba ◽  
Ssadh Deficiency

Succinic semialdehyde dehydrogenase (SSADH) deficiency is an autosomal recessive disorder of γ-aminobutyric acid (GABA) degradation, resulting in elevations of brain GABA and γ-hydroxybutyric acid (GHB). Previous magnetic resonance (MR) spectroscopy studies have shown increased levels of Glx in SSADH deficiency patients. Here in this work, we measure brain GABA in a large cohort of SSADH deficiency patients using advanced MR spectroscopy techniques that allow separation of GABA from overlapping metabolite peaks. We observed significant increases in GABA concentrations in SSADH deficiency patients for all 3 brain regions that were evaluated. Although GABA levels were higher in all 3 regions, each region had different patterns in terms of GABA changes with respect to age. We also report results from structural magnetic resonance imaging (MRI) of the same cohort compared with age-matched controls. We consistently observed signal hyperintensities in globus pallidus and cerebellar dentate nucleus.

scholarly journals Polysomnographic Abnormalities in Succinic Semialdehyde Dehydrogenase (SSADH) Deficiency

SLEEP ◽  
2009 ◽  
Vol 32 (12) ◽  
pp. 1645-1648 ◽  
Author(s):  
Phillip L. Pearl ◽  
Sadat Shamim ◽  
William H. Theodore ◽  
K. Michael Gibson ◽  
Katherine Forester ◽  
...  
Keyword(s):  
Succinic Semialdehyde ◽  
Succinic Semialdehyde Dehydrogenase ◽  
Semialdehyde Dehydrogenase ◽  
Ssadh Deficiency

scholarly journals OCD symptoms in succinic semialdehyde dehydrogenase (SSADH) deficiency: a case report

2020 ◽  
Vol 20 (1) ◽  
Author(s):  
Sachin Phakey ◽  
Thomas Rego ◽  
Frank Gaillard ◽  
Julie Panetta ◽  
Andrew Evans ◽  
...  
Keyword(s):  
Case Report ◽  
Succinic Semialdehyde ◽  
Succinic Semialdehyde Dehydrogenase ◽  
Semialdehyde Dehydrogenase ◽  
Ssadh Deficiency

Mutation analysis and prenatal diagnosis in a Chinese family with succinic semialdehyde dehydrogenase and a systematic review of the literature of reported ALDH5A1 mutations

2016 ◽  
Vol 44 (4) ◽  
Author(s):  
Ning Liu ◽  
Xiang-dong Kong ◽  
Quan-cheng Kan ◽  
Hui-rong Shi ◽  
Qing-hua Wu ◽  
...  
Keyword(s):  
Systematic Review ◽  
Prenatal Diagnosis ◽  
Genetic Analysis ◽  
Aminobutyric Acid ◽  
Chinese Family ◽  
Succinic Semialdehyde ◽  
Review Of The Literature ◽  
Succinic Semialdehyde Dehydrogenase ◽  
Semialdehyde Dehydrogenase ◽  
Ssadh Deficiency

AbstractSuccinic semialdehyde dehydrogenase (SSADH) deficiency is a neurometabolic disease in which the degradation of γ-aminobutyric acid (GABA) is impaired. The purpose of this study was to report two novelGenetic analysis ofTwo novel

Speech Motor Function and Auditory Perception in Succinic Semialdehyde Dehydrogenase Deficiency: Toward Pre–Supplementary Motor Area (SMA) and SMA-Proper Dysfunctions

2021 ◽  
pp. 088307382110012
Author(s):  
Zohreh Ziatabar Ahmadi ◽  
Melissa L. DiBacco ◽  
Phillip L. Pearl
Keyword(s):  
Auditory Perception ◽  
Supplementary Motor Area ◽  
Motor Area ◽  
Succinic Semialdehyde ◽  
Succinic Semialdehyde Dehydrogenase ◽  
Motor Functions ◽  
Semialdehyde Dehydrogenase ◽  
Magnetic Resonance Imaging Mri ◽  
Speech Motor ◽  
Ssadh Deficiency

This study reviews the fundamental roles of pre–supplementary motor area (SMA) and SMA-proper responsible for speech-motor functions and auditory perception in succinic semialdehyde dehydrogenase (SSADH) deficiency. We comprehensively searched the databases of PubMed, Google Scholar, and the electronic journals Springer, PreQuest, and Science Direct associated with keywords SSADHD, SMA, auditory perception, speech, and motor with AND operator. Transcranial magnetic stimulation emerged for assessing excitability/inhibitory M1 functions, but its role in pre-SMA and SMA proper dysfunction remains unknown. There was a lack of data on resting-state and task-based functional magnetic resonance imaging (MRI), with a focus on passive and active tasks for both speech and music, in terms of analysis of SMA-related cortex and its connections. Children with SSADH deficiency likely experience a dysfunction in connectivity between SMA portions with cortical and subcortical areas contributing to disabilities in speech-motor functions and auditory perception. Early diagnosis of auditory-motor disabilities in children with SSADH deficiency by neuroimaging techniques invites opportunities for utilizing sensory-motor integration as future interventional strategies.

Assessing Prevalence and Carrier Frequency of Succinic Semialdehyde Dehydrogenase Deficiency

2021 ◽  
Vol 36 (13-14) ◽  
pp. 1218-1222
Author(s):  
Kirt Martin ◽  
Alice McConnell ◽  
Sarah H. Elsea
Keyword(s):  
Carrier Frequency ◽  
Succinic Semialdehyde ◽  
Loss Of Function ◽  
Succinic Semialdehyde Dehydrogenase ◽  
Asian Populations ◽  
Pathogenic Variants ◽  
Semialdehyde Dehydrogenase ◽  
Succinic Semialdehyde Dehydrogenase Deficiency ◽  
Variant Analysis ◽  
Ssadh Deficiency

Pathogenic variants in ALDH5A1 cause succinic semialdehyde dehydrogenase (SSADH) deficiency, with >180 cases reported worldwide. However, a nonspecific neurologic presentation and inconsistent variant nomenclature have limited diagnoses. In this study, pathogenic variants in ALDH5A1 were curated and variant prevalence assessed in the Genome Aggregation Database (gnomAD) to determine a minimum carrier frequency and to estimate disease prevalence. Stringent population variant analysis, including 98 reported disease-associated ALDH5A1 variants, indicates a pan-ethnic carrier frequency of ∼1/340, supporting a prevalence of SSADH deficiency of ∼1/460 000 worldwide, with highest carrier frequencies observed in East Asian and South Asian populations. Because heterozygous loss of function alleles are rare in gnomAD and >60% of reported disease-causing variants were missense changes that were not present in gnomAD, the pan-ethnic carrier frequency for SSADH deficiency is likely not fully represented in this study. Additional analyses to investigate the potential impact of more common ALDH5A1 variants with reduced but not deficient enzyme activity, including analysis in diverse populations, are needed to fully assess the prevalence of this ultra-rare disease.

Succinic semialdehyde dehydrogenase (SSADH) deficiency: Molecular analysis in a South American family

2006 ◽  
Vol 29 (4) ◽  
pp. 587-587 ◽  
Author(s):  
Aida Lemes ◽  
Paola Blasi ◽  
Gabriel Gonzales ◽  
Maria E. Russi ◽  
Roberto Quadrelli ◽  
...  
Keyword(s):  
Molecular Analysis ◽  
Succinic Semialdehyde ◽  
South American ◽  
American Family ◽  
Succinic Semialdehyde Dehydrogenase ◽  
Semialdehyde Dehydrogenase ◽  
Ssadh Deficiency

123I-FP-CIT Brain SPECT Findings in Succinic Semialdehyde Dehydrogenase (SSADH) Deficiency

2020 ◽  
Vol 13 ◽  
Author(s):  
Viviana Frantellizzi ◽  
Mariano Pontico ◽  
Arianna Pani ◽  
Maria Silvia De Feo ◽  
Giuseppe De Vincentis
Keyword(s):  
Autosomal Recessive ◽  
Brain Mri ◽  
Autosomal Recessive Disorder ◽  
Brain Spect ◽  
Lower Limbs ◽  
Succinic Semialdehyde ◽  
Succinic Semialdehyde Dehydrogenase ◽  
Semialdehyde Dehydrogenase ◽  
Ssadh Deficiency ◽  
Rule Out

Background: Succinic semialdehyde dehydrogenase (SSADH) deficiency is a rare autosomal recessive disorder. Neuroimaging findings are commonly considered rather non-specific. To date, no neuroreceptorial brain imaging with 123I-FP-CIT(DaTScan) is known in subjects with SSADH deficiency. Methods: A 30-year-old man was referred to our attention to rule out any potential nigrostriatal dopaminergic presynaptic pathway alterations in a clinical context of a γ-hydroxybutyric aciduria. He showed impossibility to the autonomous gait, head and trunk retropulsion, lower limbs strength deficit, verbal and upper limbs motor stereotypies and irregular eye tracking. Results: Brain MRI depicted basal ganglia signal abnormalities. Brain SPECT with DaTSCan images showed a global significant reduction of radiotracer uptake. Conclusions: The findings obtained by means of the 123I-DaTScan brain SPECT may give rise to new concerns on pathophysiological aspects of the SSADH deficiency disorder that has never been investigated before, such as the nigrostriatal dopaminergic system functionality, encouraging further investigation.

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