# Ataxia hereditária

> Página oficial: https://raras.org/doenca/ataxia-hereditaria
> Fonte: Raras.org — Banco de Dados de Doenças Raras em Português (CC BY-NC-SA 4.0)
> Última atualização: 2026-05-07

## Identificadores

- **ORPHA**: 183518 — https://www.orpha.net/en/disease/detail/183518
- **OMIM**: none — https://omim.org/entry/none

## Descrição clínica

Um exemplo de distúrbio atático causado por uma modificação genômica herdada em um indivíduo.

## Epidemiologia e herança

- **Prevalência**: Unknown

## Sinais e sintomas (1284 fenótipos HPO)

- **Paralisia das cordas vocais** — HPO: HP:0001605
- **Atividade anormal da cadeia respiratória mitocondrial** — HPO: HP:0011922
- **Sinostose metópica** — HPO: HP:0011330
- **Arritmia** — HPO: HP:0011675
- **Acúmulo de ferro na substância negra** — HPO: HP:0012678
- **Instabilidade da fixação visual** — HPO: HP:0025405
- **Reflexo patelar diminuído** — HPO: HP:0011808
- **Linfoma não Hodgkin** — HPO: HP:0012539
- **Sobrancelha esparsa** — HPO: HP:0045075
- **Crise motora focal** — HPO: HP:0011153
- **Reflexo vestíbulo-ocular visualmente aprimorado prejudicado** — HPO: HP:0030183
- **Atividade reduzida da enzima de clivagem da glicina tecidual** — HPO: HP:6000829
- **Paralisia do sono** — HPO: HP:0025233
- **Titubeação** — HPO: HP:0030187
- **Aumento da concentração circulante de lactato desidrogenase** — HPO: HP:0025435
- **Torção estereotipada das mãos** — HPO: HP:0012171
- **Sinusite crônica** — HPO: HP:0011109
- **Nível anormal de aldolase** — HPO: HP:0012400
- **Atrofia da língua** — HPO: HP:0012473
- **Morfologia anormal da pele plantar do pé** — HPO: HP:0100872
- **Gliose da substância negra** — HPO: HP:0011960
- **Atrofia cerebral** — HPO: HP:0012444
- **Potenciais evocados motores anormais** — HPO: HP:0012896
- **Atraso na capacidade de andar com apoio** — HPO: HP:0033257
- **Polaciúria** — HPO: HP:0100515
- **Concentração anormal de creatina quinase circulante** — HPO: HP:0040081
- **Paralisia facial bilateral** — HPO: HP:0430025
- **Esodesvio** — HPO: HP:0020045
- **Células-alvo** — HPO: HP:0034280
- **Corpos de inclusão cerebrais ubiquitina-positivos** — HPO: HP:0012083
- **Defeitos da cadeia respiratória mitocondrial** — HPO: HP:0200125
- **Anormalidade da morfologia esquelética** — HPO: HP:0011842
- **Menarca atrasada** — HPO: HP:0012569
- **Quebra cromossômica induzida por radiação ionizante** — HPO: HP:0010997
- **Concentração elevada de aspartato aminotransferase circulante** — HPO: HP:0031956
- **Anormalidade dos nervos periféricos** — HPO: HP:0045010
- **Hipotonia apendicular** — HPO: HP:0012389
- **Depósitos sub-retinianos** — HPO: HP:0031528
- **Habilidade atrasada de engatinhar** — HPO: HP:0033128
- **Sensação tátil prejudicada** — HPO: HP:0010830
- _...e mais 1244 sintomas. Ver https://raras.org/doenca/ataxia-hereditaria._

## Genes associados (79)

- **RPGRIP1L** — Protein fantom [Candidate gene tested in]
  - Função: Negatively regulates signaling through the G-protein coupled thromboxane A2 receptor (TBXA2R) (PubMed:19464661). May be involved in mechanisms like programmed cell death, craniofacial development, pat
- **SCYL1** — N-terminal kinase-like protein [Candidate gene tested in]
  - Função: Regulates COPI-mediated retrograde protein traffic at the interface between the Golgi apparatus and the endoplasmic reticulum (PubMed:18556652). Involved in the maintenance of the Golgi apparatus morp
- **WWOX** — WW domain-containing oxidoreductase [Disease-causing germline mutation(s) in]
  - Função: Putative oxidoreductase. Acts as a tumor suppressor and plays a role in apoptosis. Required for normal bone development (By similarity). May function synergistically with p53/TP53 to control genotoxic
- **RNU12** [Candidate gene tested in]
- **VLDLR** — Very low-density lipoprotein receptor [Candidate gene tested in]
  - Função: Multifunctional cell surface receptor that binds VLDL and transports it into cells by endocytosis and therefore plays an important role in energy metabolism. Also binds to a wide range of other molecu
- **PDYN** — Proenkephalin-B [Disease-causing germline mutation(s) in]
  - Função: Leu-enkephalins compete with and mimic the effects of opiate drugs. They play a role in a number of physiologic functions, including pain perception and responses to stress (By similarity) Dynorphin p
- **ATXN2** — Ataxin-2 [Disease-causing germline mutation(s) in]
  - Função: Involved in EGFR trafficking, acting as negative regulator of endocytic EGFR internalization at the plasma membrane
- **PNPLA6** — Patatin-like phospholipase domain-containing protein 6 [Candidate gene tested in]
  - Função: Phospholipase B that deacylates intracellular phosphatidylcholine (PtdCho), generating glycerophosphocholine (GroPtdCho). This deacylation occurs at both sn-2 and sn-1 positions of PtdCho. Catalyzes t
- **TUBB2B** — Tubulin beta-2B chain [Candidate gene tested in]
  - Função: Tubulin is the major constituent of microtubules, a cylinder consisting of laterally associated linear protofilaments composed of alpha- and beta-tubulin heterodimers (PubMed:23001566, PubMed:26732629
- **PEX10** — Peroxisome biogenesis factor 10 [Candidate gene tested in]
  - Função: E3 ubiquitin-protein ligase component of a retrotranslocation channel required for peroxisome organization by mediating export of the PEX5 receptor from peroxisomes to the cytosol, thereby promoting P
- **TMEM231** — Transmembrane protein 231 [Disease-causing germline mutation(s) in]
  - Função: Transmembrane component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the
- **GRM1** — Metabotropic glutamate receptor 1 [Disease-causing germline mutation(s) in]
  - Função: G-protein coupled receptor for glutamate. Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of down-st
- **THG1L** — Probable tRNA(His) guanylyltransferase [Disease-causing germline mutation(s) in]
  - Função: Adds a GMP to the 5'-end of tRNA(His) after transcription and RNase P cleavage. This step is essential for proper recognition of the tRNA and for the fidelity of protein synthesis (Probable). Also fun
- **FGF14** — Fibroblast growth factor 14 [Candidate gene tested in]
  - Função: Probably involved in nervous system development and function
- **ATN1** — Atrophin-1 [Disease-causing germline mutation(s) in]
  - Função: Transcriptional corepressor. Recruits NR2E1 to repress transcription. Promotes vascular smooth cell (VSMC) migration and orientation (By similarity). Corepressor of MTG8 transcriptional repression. Ha

## Ensaios clínicos ativos (3)

- **NCT07092358** [RECRUITING]: Hereditary Ataxia Research on Multi-Omics and Neuroclinical Insights in the Yangtze Delta — https://clinicaltrials.gov/study/NCT07092358
- **NCT01793168** [RECRUITING]: Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford — https://clinicaltrials.gov/study/NCT01793168
- **NCT07200505** [NOT_YET_RECRUITING]: Telerehabilitation for Core Stability and Strength in Hereditary Ataxia — https://clinicaltrials.gov/study/NCT07200505
- **NCT06152133** [COMPLETED]: Telerehabilitation, Core Stability Exercises and Hereditary Ataxia (TRCore-ataxia) — https://clinicaltrials.gov/study/NCT06152133
- **NCT00202397** [COMPLETED]: Effect of Riluzole as a Symptomatic Approach in Patients With Chronic Cerebellar Ataxia — https://clinicaltrials.gov/study/NCT00202397
- **NCT04750850** [COMPLETED]: Core Stability Exercises and Hereditary Ataxia — https://clinicaltrials.gov/study/NCT04750850
- **NCT04740359** [COMPLETED]: Functional Trunk Training in Ataxia Patients — https://clinicaltrials.gov/study/NCT04740359
- **NCT05160870** [UNKNOWN]: Genotype-phenotype Correlation and Pathogenic Mechanism in Hereditary Ataxia — https://clinicaltrials.gov/study/NCT05160870
- **NCT05160883** [UNKNOWN]: Neuroimaging Changes in Hereditary Ataxia — https://clinicaltrials.gov/study/NCT05160883
- **NCT01360164** [UNKNOWN]: Safety and Efficacy of Umbilical Cord Mesenchymal Stem Cell Therapy for Patients With Hereditary Ataxia — https://clinicaltrials.gov/study/NCT01360164

## Doenças relacionadas (por similaridade fenotípica)

- [Ataxia espástica](https://raras.org/doenca/ataxia-espastica) — ORPHA:316226 — 200 sintomas em comum
- [Ataxia cerebelosa ligada ao X](https://raras.org/doenca/ataxia-cerebelosa-ligada-ao-x) — ORPHA:247765 — 144 sintomas em comum
- [Ataxia espástica autossômica recessiva](https://raras.org/doenca/ataxia-espastica-autossomica-recessiva) — ORPHA:316240 — 144 sintomas em comum
- [Ataxia cerebelar sindrômica autossômica recessiva](https://raras.org/doenca/ataxia-cerebelar-sindromica-autossomica-recessiva) — ORPHA:98099 — 142 sintomas em comum
- [Paraplegia espástica complexa autossômica dominante](https://raras.org/doenca/paraplegia-espastica-complexa-autossomica-dominante) — ORPHA:100979 — 139 sintomas em comum
- [Síndrome de hipotonia-transtorno da linguagem-transtorno do desenvolvimento intelectual grave](https://raras.org/doenca/sindrome-de-hipotonia-transtorno-da-linguagem-transtorno-do-desenvolvimento-intelectual-grave) — ORPHA:371364 — 138 sintomas em comum
- [Ataxia espinocerebelar tipo 29](https://raras.org/doenca/ataxia-espinocerebelar-tipo-29) — ORPHA:208513 — 138 sintomas em comum
- [Trissomia parcial do cromossomo 16](https://raras.org/doenca/trissomia-parcial-do-cromossomo-16) — ORPHA:262672 — 137 sintomas em comum
- [Duplicação/triplicação parcial do cromossomo 5](https://raras.org/doenca/duplicacaotriplicacao-parcial-do-cromossomo-5) — ORPHA:262211 — 137 sintomas em comum
- [Trissomia parcial do braço curto do cromossomo 16](https://raras.org/doenca/trissomia-parcial-do-braco-curto-do-cromossomo-16) — ORPHA:262794 — 137 sintomas em comum

## Importante

O Raras **não diagnostica e não prescreve**. Esta página é educativa e informativa.
Pacientes devem consultar profissionais de saúde qualificados para decisões clínicas.

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