Spinocerebellar ataxia recessive type 7 due to novel compound heterozygous variants in TPP1: First report from India

Holla, Vikram V.; Jha, Sunil Kumar; Pal, Pramod Kumar; Yadav, Ravi; Phulpagar, Prashant; Muthusamy, Babylakshmi; Arunachal, Gautham

doi:10.1016/j.parkreldis.2021.12.006

Cited by 2 publications

(5 citation statements)

References 7 publications

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“…Furthermore, biallelic mutations of the TPP1 gene are generally ineffective in classical CLN2, and are generally less severe in juvenile CLN2 and other atypical phenotypes [1] . We performed the whole exosome + mitochondrial genome sequencing for the patient and his family and found two mutations of TPP1 on the patient's genome (c.1468G > A p.Glu490Lys and c.1417G > A p.Gly473Ary), a group of compound heterozygous mutations According to the database: HGMD Pro, PubMed, ClinVar, c.1468G > A mutation has not been reported in the literature.…”

Section: Discussionmentioning

confidence: 99%

“…A 17-year-old female SCAR7 patient was reported in India, who exhibited typical SCAR7 features, including cerebellar ataxia with pyramidal signs, and brain MRI showing diffuse cerebellar atrophy. Two complex heterozygous mutations were identi ed in the TPP1 gene by genetic testing: a novel single-base pair deletion mutation (Variant-1, chr11:g.6636749delA;c.1190delT;p.Phe397Serf sTer30;NM_000391.4) and a missense mutation (Variant-2, chr11:g.6636213G > C; c.1435C > G; p.Pro479Ala; NM_000391.4) [1] .…”

Section: Discussionmentioning

confidence: 99%

“…TPP1 is an extra-lysosomal peptidase that sequentially removes tripeptides from the N-terminal of a protein and has weak endopeptidase activity, which is synthesized as a non-catalytic enzyme that is activated and automatically goes through proteolysis when acidi ed. SCAR7 is characterized by childhood to adolescent ataxia, with or without pyramidal signs, posterior column involvement and nystagmus, and pontine and cerebellar atrophy in the radiograph [1] . The progression of patient's condition often causes signi cant physical, mental, and economic burdens.…”

Section: Introductionmentioning

confidence: 99%

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Compound heterozygous mutations in the TPP1 gene causes the rare Autosomal recessive spinocerebellar ataxia type 7 : A case report and review

Wang

Jia

et al. 2022

Preprint

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Background: Spinocerebellar ataxia type (SCA) type 7 is an inherited neurological disorder that can be inherited as autosomal dominant, autosomal recessive, X-linked, or mitochondrial. In clinical practice, the most common type of SCA7 is autosomal dominant, and the autosomal recessive spinocerebellar ataxia 7 (SCAR7) has been rarely reported. Here, we report the first case of SCAR7 from China with compound heterozygous missense mutations in the Tripeptidyl peptidase-I (TPP1) gene. Case presentation: A 25-year-old female patient presented with difficulty in walking, easy falling, accompanied by limb shaking, unstable holding objects, slurred speech, choking and coughing when drinking water, palpitations, easy hunger, and hyper-eating without obvious causes 12 years ago. She was admitted to a tertiary general hospital for a cranial MRI examination, which showed cerebellar atrophy. The patient had dysarthria, and had horizontal nystagmus in both eyes for left vision. She was not stable and precise enough in the bilateral finger-nose test and heel and knee shin test and showed Romberg's sign (+). Wechsler Adult intelligence test suggested mild intelligence defect. Genetic testing showed that there were two compound heterozygous mutations in the TPP1 gene. The patient was diagnosed as SCAR7. Conclusions: The results of autosome testing and sequencing showed that the SCAR7 case was caused by compound heterozygous mutations of the TPP1 gene (c.1468G>A p.Glu490Lys and c.1417G>A p.Gly473Ary). This mutation has not been reported in the Chinese population and is a rare novel mutation. This finding provides a new starting point for the study of the SCAR7 gene.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Compound heterozygous mutations in the TPP1 gene causes the rare Autosomal recessive spinocerebellar ataxia type 7 : A case report and review

Wang

Jia

et al. 2022

Preprint

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“…SCAR7 is caused by low activity of tripeptidyl peptidase 1 ( TPP1 ) and presents from childhood to adolescence with cerebellar ataxia, pyramidal signs, deep sensory loss, and pontine and cerebellar atrophy[ 2 ]. As the disease progresses, it will cause serious damage to the patient’s body and spirit, and cause a serious financial burden to the patient’s family.…”

Section: Introductionmentioning

confidence: 99%

“…Of the more than 100 pathogenic mutations in TPP1 , only 1% clinically manifest as SCAR7[ 3 ]. To date, < 10 patients with SCAR7 have been reported worldwide[ 2 , 4 ]. This is the first SCAR7 patient reported in China due to missense compound heterozygous mutations in the TPP1 gene.…”

Section: Introductionmentioning

confidence: 99%

Compound heterozygous mutations in tripeptidyl peptidase 1 cause rare autosomal recessive spinocerebellar ataxia type 7: A case report

Liu,

Wang,

Jia

et al. 2023

World J Clin Cases

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In recent years, metabolomics research has become a hot spot in the screening and treatment of cancer. It is a popular technique for the quantitative characterization of small molecular compounds in biological cells, tissues, organs or organisms. Further study of the tumor revealed that amino acid changes may occur early in the tumor. The rapid growth and metabolism required for survival result in tumors exhibiting an increased demand for amino acids. An abundant supply of amino acids is important for cancer to maintain its proliferative driving force. Changes in amino acid metabolism can be used to screen malignant tumors and improve therapeutic outcomes. Therefore, it is particularly important to study the characteristics of amino acid metabolism in colorectal cancer. This article reviews several specific amino acid metabolism characteristics in colorectal cancer.

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Spinocerebellar ataxia recessive type 7 due to novel compound heterozygous variants in TPP1: First report from India

Cited by 2 publications

References 7 publications

Compound heterozygous mutations in the TPP1 gene causes the rare Autosomal recessive spinocerebellar ataxia type 7 : A case report and review

Compound heterozygous mutations in the TPP1 gene causes the rare Autosomal recessive spinocerebellar ataxia type 7 : A case report and review

Compound heterozygous mutations in tripeptidyl peptidase 1 cause rare autosomal recessive spinocerebellar ataxia type 7: A case report

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