Ask about this productRelated genes to: Pnpla6 Blocking Peptide
- Gene:
- PNPLA6 NIH gene
- Name:
- patatin like phospholipase domain containing 6
- Previous symbol:
- -
- Synonyms:
- NTE, sws, iPLA2delta, SPG39
- Chromosome:
- 19p13.2
- Locus Type:
- gene with protein product
- Date approved:
- 2006-07-05
- Date modifiied:
- 2015-11-23
Related products to: Pnpla6 Blocking Peptide
Related articles to: Pnpla6 Blocking Peptide
- This case report describes a novel presentation of homozygous PNPLA6 gene mutation (c.3547C>T; p.Arg1183Trp) manifesting as isolated cerebellar ataxia in two male first cousins from an Emirati family, characterized by cerebellar ataxia without systemic manifestation. This report highlights the implications for genetic diagnosis and counseling in families with consanguinity. Two affected male first cousins (ages 53 and 61 years) were retrospectively identified through our tertiary-care neurology clinic's medical registry. Both patients underwent standardized neurological examination, brain magnetic resonance imaging (MRI), and next-generation sequencing of ataxia-related genes. The family history was assessed in consenting relatives. Both patients presented with insidious onset dysarthria, progressive truncal and limb ataxia, wide-based gait, dysmetria, and bilateral dysdiadochokinesia. Brain MRI (both T1-weighted and T2-weighted sequences) demonstrated isolated cerebellar vermian and hemispheric atrophy with increased cerebrospinal fluid (CSF) spaces. No endocrine, retinal, or systemic abnormalities were identified. Genetic testing confirmed the same homozygous PNPLA6 variant (c.3547C>T; p.Arg1183Trp). The patients were offered supportive physiotherapy to improve balance and fall precautions, as well as genetic counseling for family planning. This familial case report expands the recognized phenotypic spectrum of PNPLA6-related disorders by demonstrating predominantly cerebellar ataxia without endocrine or retinal involvement. These findings underscore the importance of genetic screening in unexplained adult-onset ataxia, particularly in consanguineous families, even in the absence of classic syndromic features. - Source: PubMed
Publication date: 2026/04/14
Alawadhi AhmadAlmarzooqi AliKhan MariaAlrukn Suhail - To describe atypical peripapillary retinal changes and neuroimaging findings in a patient with Gordon Holmes syndrome associated with compound heterozygous variants, expanding the ophthalmic phenotype of this rare disorder. A single case was reviewed. A 31-year-old woman with Gordon Holmes syndrome was referred for ophthalmic evaluation. Fundus autofluorescence imaging demonstrated atrophic peripapillary retinal pigment epithelial changes without central chorioretinal atrophy, distinguishing it from the phenotype typically seen in Boucher-Neuhäuser syndrome. Magnetic resonance imaging (MRI) of the brain revealed cerebellar atrophy and marked bilateral T2 hyperintensities in the basis pontis. Over 8 years of follow-up, visual acuity remained stable, with mild progression of pigment epithelial changes. Gordon Holmes syndrome may present with atypical peripapillary retinal changes and mild pigmentary retinopathy without clinically significant visual loss. These previously unrecognized retinal findings, along with atypical MRI features, broaden the ophthalmologic and neuroimaging spectrum of -related disorders. Recognition of these manifestations may help ophthalmologists diagnose such rare neurodegenerative conditions. - Source: PubMed
Publication date: 2026/05/11
Lu Edward SKozek Lindsay KlofasMartinez-Velazquez LuisStephen Christopher DEliott Dean - Gordon Holmes syndrome (GHS, MIM 212840) is an autosomal recessive disorder with a clinical manifestation of cerebellar ataxia, dementia and hypogonadotropic hypogonadism. To describe the clinical and genetic profile of patients with GHS reported worldwide with genotype-phenotype correlation. This is a review of reported cases of GHS based on the different genetic variant worldwide. We report 2 patients of GHS due to variant in the RNF216 gene. There was total 29 reported cases of GHS with RNF216 variants, 9 cases with PNPLA6 variants, and 5 with STUB1 variant. There was male predominance in the RNF216 and PNPLA6 variants. The median age at onset was lower and duration of illness was longer in STUB1 variants. Cerebellar ataxia and dysarthria were seen in all variants. Dementia, chorea and psychiatric disturbances were common in RNF216 variants. Seizures were seen only in STUB1 variants. Hypogonadotrophic hypogonadism were seen in all variants. Brain magnetic resonance imaging showed signal changes in the white matter apart from the cerebellar and cerebral atrophy in RNF216 variants. Missense, frameshift and non-sense variants were common in RNF216 and missense variants were common in PNPLA6 and STUB1. The phenotypic and genotypic presentation of GHS is heterogeneous with variants in the RNF216 representing majority of GHS cases. - Source: PubMed
Publication date: 2026/05/04
Mahale Rohan RMailankody Pooja - - Source: PubMed
Publication date: 2025/12/14
Qiu RuojunTang MingmingZhu WeifenWang BinghongLi WenyuLei YongzhenZheng Fenping - Pathogenic variants in PNPLA6, encoding neuropathy target esterase (NTE), cause PNPLA6 disorders, characterized by chorioretinal dystrophy, hypopituitarism, and peripheral neuropathy. While defective NTE disrupts phospholipid homeostasis, the disease mechanism remains unclear. We generated the MURAi007-A human induced pluripotent stem cell (hiPSC) line from a male patient with PNPLA6 disorders using a non-integrating method. This hiPSC line demonstrates a normal karyotype and can differentiate into all three germ layers. The MURAi007-A line is a valuable model for investigating PNPLA6 disorder mechanisms and may also aid research into other retinal and neurological diseases. - Source: PubMed
Publication date: 2026/03/21
Chokpanuwat TanidaYanukun KlodthidaThong-Ngam PirutKhongkrapan ArthapornTubsuwan AlisaSujirakul TharikarnChaiamarit TaiBhukhai KanitWongkittichote ParithAsavapanumas Nithi