SCA6 10 CAG repeat Genemer Control DNA
- Known as:
- SCA6 10 CAG repeat Genemer Control Desoxyribonucleic acid
- Catalog number:
- 40-2040-01
- Product Quantity:
- 500ng
- Category:
- -
- Supplier:
- Gene Link
- Gene target:
- SCA6 10 CAG repeat Genemer Control DNA
Related genes to: SCA6 10 CAG repeat Genemer Control DNA
- Gene:
- CACNA1A NIH gene
- Name:
- calcium voltage-gated channel subunit alpha1 A
- Previous symbol:
- CACNL1A4, SCA6, MHP1, MHP
- Synonyms:
- Cav2.1, EA2, APCA, HPCA, FHM
- Chromosome:
- 19p13.13
- Locus Type:
- gene with protein product
- Date approved:
- 1996-06-18
- Date modifiied:
- 2019-04-23
Related products to: SCA6 10 CAG repeat Genemer Control DNA
Related articles to: SCA6 10 CAG repeat Genemer Control DNA
- Amyotrophic lateral sclerosis (ALS), the most common type of motor neuron disease, primarily manifests as progressive weakness, atrophy, fasciculations, bulbar palsy, and pyramidal tract symptoms. Accumulating evidence indicates that the pathological spectrum of ALS extends beyond the pyramidal and neuromuscular motor systems, involving additional brain regions, manifesting as ALS-plus syndrome. We present a case of an elderly woman with bulbar-onset ALS accompanied by cerebellar manifestations and an intermediate-length allele. Based on the Gold Coast criteria, ALS diagnosis was made. Notably, the patient exhibited cognitive impairment and a positive Romberg sign, suggesting a broader phenotypic spectrum. Genetic analysis showed a CAG repeat genotype of 10/20 in the gene. The patient's son carried a 14/20 genotype and displayed isolated cerebellar ataxia without motor neuron features. We reviewed the literature on spinocerebellar ataxia (SCA) co-occurring with motor neuron disease and discussed the uncertain significance of the intermediate-length allele in this context, weighing coincidental co-occurrence against a potential causal link. To our knowledge, this case is the first reported instance of an intermediate-length allele co-occurring with ALS in Chinese population, although the association between the allele and ALS remains unclear. - Source: PubMed
Publication date: 2026/08/19
Gao XinyaoWang TingtingChen SihuiMa YuanzhengWei QianqianLi ChunyuShang HuifangChen Xueping - Neonatal encephalopathy (NE) is a major cause of neonatal mortality and long-term neurological disability. Although hypoxic-ischaemic encephalopathy (HIE) is the most common cause, several genetic disorders may mimic or coexist with hypoxic-ischaemic injury. Next-generation sequencing has emerged as a promising diagnostic tool in this setting. This systematic review evaluated the current evidence on genomic sequencing in NE. - Source: PubMed
Publication date: 2026/07/24
Colacurci DarioSarno LauraFiore EmmanuelRaimondi FrancescoMartinelli NinaSirico AngeloDi Carlo CostantinoBifulco GiuseppeGuida MaurizioMaruotti Giuseppe Maria - Familial hemiplegic migraine (FHM) is a rare and complex inherited subtype of migraine with aura, characterised by migraine with a reversible motor aura, and may present with a wide spectrum of neurological symptoms, making diagnosis particularly challenging. - Source: PubMed
Publication date: 2026/07/22
Goossens AmandineDelabie Ann-LaurenceDemaret TanguyKaradurmus DenizPignato Vincenzo - Macroautophagy/autophagy is a critical cellular degradation pathway essential for neuronal proteostasis and synaptic function. Its decline with aging is associated with synaptic dysfunction and reduced circuit resilience. NPY (neuropeptide Y), a highly abundant brain neuropeptide, has emerged as an important regulator of autophagy and aging-related processes. In , the NPY-family peptide sNPF modulates age-related changes in presynaptic architecture via non-cell autonomous mechanisms. Here, we examined whether autophagy and NPY interact within hypothalamic NPY AGRP neurons to regulate presynaptic organization in distant brain regions. We show that autophagy in these neurons non-cell autonomously controls hippocampal presynaptic active zone architecture and proteostasis, while maintaining NPY peptide levels. Importantly, dietary supplementation of the natural polyamine spermidine restored NPY expression in the aged hippocampus, highlighting its potential to rejuvenate neuropeptide signaling. Together, these findings reveal a pathway by which hypothalamic autophagy and NPY signaling regulate hippocampal synaptic architecture, linking metabolic state to synaptic resilience.: AGRP: agouti related neuropeptide; ARC: arcuate nucleus; ATG5: autophagy related 5; AZ: active zone; BECN1/beclin1: beclin 1, autophagy related; brp: bruchpilot; BSN: bassoon; CA3-CA1: cornu ammonis 3-cornu ammonis 1; CACNA1A/CaV2.1: calcium channel, voltage-dependent, P/Q type, alpha 1A subunit; cKO: conditional knockout; gSTED: time-gated Stimulated Emission Depletion; HOMER1: homer scaffolding protein 1; KO: knockout; MAP1LC3/LC3: microtubule-associated protein 1 light chain 3; MB: mushroom body; MF-CA3: mossy fiber-cornus ammonis 3; NPY: neuropeptide Y; NPY1R: neuropeptide Y receptor Y1; NPY2R: neuropeptide Y receptor Y2; NPY5R: neuropeptide Y receptor Y5; PreScale: presynaptic upscaling; RIMBP2: RIMS binding protein 2; SQSTM1/p62: sequestosome 1; sNPF: short neuropeptide F precursor; SLC30A3/ZNT3: solute carrier family 30 (zinc transporter), member 3; Spd: spermidine; Spd-S: spermidine supplementation; WT: wild-type. - Source: PubMed
Publication date: 2026/08/30
Cazzolla GiovannaToppe DavidKrause GinaKochlamazashvili GagaLützkendorf JanineSchedina Ina MStephanowitz HeikeReisenbichler Anna MariaChen XingxiangKerkhoff YannicReifenstein EricErnst Helen Mvon Kleist MaxZimmermann AndreasEisenberg TobiasMadeo FrankLiu FanHerzog HerbertAlbrecht AnneSchmitz DietmarHaucke VolkerSigrist Stephan JMaglione Marta - A woman in her mid-50s presented with an uncomfortable pulling sensation in the right neck that worsened with movement. This was diagnosed as cervical dystonia and treated symptomatically for several years through trials of botulinum toxin. As the years progressed, her symptoms worsened and evolved with the patient eventually experiencing debilitating ataxia requiring use of a wheelchair for mobility, severe dysphagia requiring the use of a feeding tube for nutrition and dysarthria requiring the need of a family member for translation. Through genetic testing, the patient was diagnosed with spinocerebellar ataxia-CACNA1A (SCA-CACNA1A, previously SCA6). The patient had an unusual presentation of the syndrome with dystonia having been the initial symptom, resulting in the patient failing to receive diagnostic clarification of her symptoms until 10 years after the onset of symptoms. Clinicians should consider SCA-CACNA1A in their differential diagnoses if a patient presents with dystonia of unknown aetiology. - Source: PubMed
Publication date: 2026/08/03
Deng YongjiaFletcher DavidColantonio LeaAbdulrazak AlaliPeron KristinaFrey Jessica