ATP 6V0A2 ‐related cutis laxa in 10 novel patients: Focus on clinical variability and expansion of the phenotype

2018 ◽  
Vol 28 (10) ◽  
pp. 1142-1145 ◽  
Author(s):  
Aude Beyens ◽  
Ester Moreno‐Artero ◽  
Christine Bodemer ◽  
Helen Cox ◽  
Alper Gezdirici ◽  
...  
Keyword(s):  
Cutis Laxa ◽  
Clinical Variability

scholarly journals SPG9A with the new occurrence of an ALDH18A1 mutation in a CMT1A family with PMP22 duplication: case report

BMC Neurology ◽  
2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Kishin Koh ◽  
Ryusuke Takaki ◽  
Hiroyuki Ishiura ◽  
Shoji Tsuji ◽  
Yoshihisa Takiyama
Keyword(s):  
Amino Acid ◽  
De Novo ◽  
Clinical Manifestations ◽  
Cutis Laxa ◽  
De Novo Mutation ◽  
Fish Analysis ◽  
Japanese Family ◽  
Related Disorder ◽  
Clinical Variability ◽  
Amino Acid Levels

Abstract Background ALDH18A1 mutations lead to delta-1-pyrroline-5-carboxylate-synthetase (P5CS) deficiency, which is a urea cycle-related disorder including SPG9A, SPG9B, autosomal dominant cutis laxa-3 (ADCL3), and autosomal recessive cutis laxa type 3A (ARCL3A). These diseases exhibit a broad clinical spectrum, which makes the diagnosis of P5CS deficiency difficult. We report here a rare Japanese family including both patients with an ALDH18A1 mutation (SPG9A) and ones with CMT1A. Case presentation A Japanese family included five patients with the CMT phenotype and five with the HSP phenotype in four generations. The patients with the HSP phenotype showed a pure or complicated form, and intrafamilial clinical variability was noted. Genetically, FISH analysis revealed that two CMT patients had a PMP22 duplication (CMT1A). Exome analysis and Sanger sequencing revealed five HSP patients had an ALDH18A1 heterozygous mutation of c.755G > A, which led to SPG9A. Haplotype analysis revealed that the ALDH18A1 mutation must have newly occurred. To date, although de novo mutations of ALDH18A1 have been described in ADCL3A, they were not mentioned in SPG9A in earlier reports. Thus, this is the first SPG9A family with a de novo mutation or the new occurrence of gonadal mosaicism of ALDH18A1. Analysis of serum amino acid levels revealed that two SPG9A patients and two unaffected family members had low citrulline levels and one had a low level of ornithine. Conclusions Since the newly occurring ALDH18A1 mutation, c.755G > A, is the same as that in two ADHSP families and one sporadic patient with SPG9A reported previously, this genomic site might easily undergo mutation. The patients with the c.755G > A mutation in our family showed clinical variability of symptoms like in the earlier reported two families and one sporadic patient with this mutation. Further studies are required to clarify the relationship between the amino acid levels and clinical manifestations, which will reveal how P5CS deficiency influences disease phenotypes including ARCL3A, ADCL3, SPG9B, and SPG9A.

Fractional Carbon Dioxide Laser Treatment for Textural Improvement and Symptomatic Relief of Acquired Cutis Laxa of the Neck

2020 ◽  
Author(s):  
Neera R. Nathan ◽  
Daniel M. O'Connor ◽  
Jonathan J. Lee ◽  
Kristine M. Cornejo ◽  
Jennifer K. Tan ◽  
...  
Keyword(s):  
Carbon Dioxide ◽  
Laser Treatment ◽  
Carbon Dioxide Laser ◽  
Symptomatic Relief ◽  
Cutis Laxa ◽  
Fractional Carbon Dioxide Laser

Keutel syndrome with overlapping features of cutis laxa: A new variant

2006 ◽  
Vol 140A (13) ◽  
pp. 1487-1489 ◽  
Author(s):  
Arti Nanda ◽  
Jehoram T. Anim ◽  
Meshal Al-Gareeb ◽  
Qasem A. Alsaleh
Keyword(s):  
Cutis Laxa ◽  
Keutel Syndrome ◽  
New Variant

Genotype–phenotype spectrum of PYCR1-related autosomal recessive cutis laxa

2013 ◽  
Vol 110 (3) ◽  
pp. 352-361 ◽  
Author(s):  
Aikaterini Dimopoulou ◽  
Björn Fischer ◽  
Thatjana Gardeitchik ◽  
Phillipe Schröter ◽  
Hülya Kayserili ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Cutis Laxa

No impact of adult attachment and temperament on clinical variability in patients with clinically isolated syndrome and early multiple sclerosis

2013 ◽  
Vol 115 (3) ◽  
pp. 293-297 ◽  
Author(s):  
Christian Fazekas ◽  
Michael Khalil ◽  
Christian Enzinger ◽  
Franziska Matzer ◽  
Siegrid Fuchs ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Adult Attachment ◽  
Clinically Isolated Syndrome ◽  
Clinical Variability
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