# Doença de Parkinson de início juvenil

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

## Identificadores

- **ORPHA**: 2828 — https://www.orpha.net/en/disease/detail/2828
- **CID-10**: G20
- **OMIM**: none — https://omim.org/entry/none

## Descrição clínica

Uma forma da doença de Parkinson (DP) que se manifesta entre os 21 e 45 anos de idade, caracterizada por rigidez, cãibras dolorosas seguidas de tremor, lentidão dos movimentos, espasmos musculares involuntários, dificuldades para andar e quedas, além de outros sintomas não relacionados ao movimento. A doença geralmente avança de forma lenta e, na maioria dos casos, há uma resposta mais acentuada ao tratamento com medicamentos que agem na dopamina.

## Epidemiologia e herança

- **Prevalência**: 1-5 / 10 000
- **Padrão de herança**: Autosomal recessive

## Sinais e sintomas (121 fenótipos HPO)

- **Caquexia** — HPO: HP:0004326
- **Incontinência intestinal** — HPO: HP:0002607
- **Alucinações visuais** — HPO: HP:0002367
- **Hiperreflexia em membros superiores** — HPO: HP:0007350
- **Reflexo patelar hiperativo** — HPO: HP:0007083
- **Fraqueza muscular generalizada** — HPO: HP:0003324
- **Hiperreflexia do membro inferior** — HPO: HP:0002395
- **Letargia** — HPO: HP:0001254
- **Febre** — HPO: HP:0001945
- **Morfologia anormal do pé** — HPO: HP:0001760
- **Distonia lingual** — HPO: HP:0031008
- **Disfunção do neurônio motor superior** — HPO: HP:0002493
- **Anormalidade do dedo** — HPO: HP:0001167
- **Nistagmo** — HPO: HP:0000639
- **Paralisia do olhar supranuclear vertical** — HPO: HP:0000511
- **Anormalidade da função mental superior** — HPO: HP:0011446
- **Crise oculogírica** — HPO: HP:0010553
- **Fraqueza dos músculos da língua** — HPO: HP:0000183
- **Morfologia anormal do núcleo caudado** — HPO: HP:0002339
- **Fraqueza muscular** — HPO: HP:0001324
- **Paralisia do olhar para cima** — HPO: HP:0025331
- **Atrofia cerebral difusa** — HPO: HP:0002506
- **Blefaroespasmo** — HPO: HP:0000643
- **Distonia da perna** — HPO: HP:0031959
- **Torcicolo** — HPO: HP:0000473
- **Deficiência intelectual, leve** — HPO: HP:0001256
- **Hipertonia** — HPO: HP:0001276
- **Anartria** — HPO: HP:0002425
- **Fácies em máscara** — HPO: HP:0000298
- **Reflexo palmomentoniano** — HPO: HP:0030902
- **Anosmia** — HPO: HP:0000458
- **Paraparesia** — HPO: HP:0002385
- **Comprometimento sensorial distal** — HPO: HP:0002936
- **Reflexos exaltados** — HPO: HP:0001348
- **Movimentos sacádicos lentos** — HPO: HP:0000514
- **Mioclonias** — HPO: HP:0001336
- **Episódios psicóticos** — HPO: HP:0000725
- **Ataxia** — HPO: HP:0001251
- **Paraplegia espástica** — HPO: HP:0001258
- **Comportamento agressivo** — HPO: HP:0000718
- _...e mais 81 sintomas. Ver https://raras.org/doenca/doenca-de-parkinson-de-inicio-juvenil._

## Genes associados (12)

- **PINK1** — Serine/threonine-protein kinase PINK1, mitochondrial [Disease-causing germline mutation(s) in]
  - Função: Serine/threonine-protein kinase which acts as a sensor of mitochondrial damage and protects against mitochondrial dysfunction during cellular stress (PubMed:40080546). It phosphorylates mitochondrial
- **ATP13A2** — Polyamine-transporting ATPase 13A2 [Disease-causing germline mutation(s) in]
  - Função: ATPase which acts as a lysosomal polyamine exporter with high affinity for spermine (PubMed:31996848). Also stimulates cellular uptake of polyamines and protects against polyamine toxicity (PubMed:319
- **PODXL** — Podocalyxin [Disease-causing germline mutation(s) (loss of function) in]
  - Função: Involved in the regulation of both adhesion and cell morphology and cancer progression. Functions as an anti-adhesive molecule that maintains an open filtration pathway between neighboring foot proces
- **LRRK2** — Leucine-rich repeat serine/threonine-protein kinase 2 [Candidate gene tested in]
  - Função: Serine/threonine-protein kinase which phosphorylates a broad range of proteins involved in multiple processes such as neuronal plasticity, innate immunity, autophagy, and vesicle trafficking (PubMed:1
- **PARK7** — Parkinson disease protein 7 [Disease-causing germline mutation(s) in]
  - Função: Multifunctional protein with controversial molecular function which plays an important role in cell protection against oxidative stress and cell death acting as oxidative stress sensor and redox-sensi
- **VPS13C** — Intermembrane lipid transfer protein VPS13C [Disease-causing germline mutation(s) (loss of function) in]
  - Função: Mediates the transfer of lipids between membranes at organelle contact sites (By similarity). Necessary for proper mitochondrial function and maintenance of mitochondrial transmembrane potential (PubM
- **DNAJC6** — Auxilin [Disease-causing germline mutation(s) (loss of function) in]
  - Função: May act as a protein phosphatase and/or a lipid phosphatase. Co-chaperone that recruits HSPA8/HSC70 to clathrin-coated vesicles (CCVs) and promotes the ATP-dependent dissociation of clathrin from CCVs
- **HTRA2** — Serine protease HTRA2, mitochondrial [Candidate gene tested in]
  - Função: Serine protease that shows proteolytic activity against a non-specific substrate beta-casein (PubMed:10873535). Promotes apoptosis by either relieving the inhibition of BIRC proteins on caspases, lead
- **UCHL1** — Ubiquitin carboxyl-terminal hydrolase isozyme L1 [Candidate gene tested in]
  - Função: Deubiquitinase that plays a role in the regulation of several processes such as maintenance of synaptic function, cardiac function, inflammatory response or osteoclastogenesis (PubMed:22212137, PubMed
- **SNCA** — Alpha-synuclein [Candidate gene tested in]
  - Função: Neuronal protein that plays several roles in synaptic activity such as regulation of synaptic vesicle trafficking and subsequent neurotransmitter release (PubMed:20798282, PubMed:26442590, PubMed:2828
- **PRKN** — E3 ubiquitin-protein ligase parkin [Disease-causing germline mutation(s) in]
  - Função: Functions within a multiprotein E3 ubiquitin ligase complex, catalyzing the covalent attachment of ubiquitin moieties onto substrate proteins (PubMed:10888878, PubMed:10973942, PubMed:11431533, PubMed
- **SYNJ1** — Synaptojanin-1 [Disease-causing germline mutation(s) in]
  - Função: Phosphatase that acts on various phosphoinositides, including phosphatidylinositol 4-phosphate, phosphatidylinositol (4,5)-bisphosphate and phosphatidylinositol (3,4,5)-trisphosphate (PubMed:23804563,

## Ensaios clínicos ativos (4)

- **NCT06976268** [RECRUITING]: A Study to Determine if BHV-8000 is Effective, Safe and Tolerable as a Treatment for Adults Living With Early Parkinson's Disease — https://clinicaltrials.gov/study/NCT06976268
- **NCT06608355** [RECRUITING]: The Safety, Tolerability and Preliminary Efficacy of NouvNeu001 for Early-onset Parkinson's Disease — https://clinicaltrials.gov/study/NCT06608355
- **NCT03508960** [RECRUITING]: Chinese EOPD Registry — https://clinicaltrials.gov/study/NCT03508960
- **NCT07267065** [NOT_YET_RECRUITING]: AAV2-hAADC for Parkinson's Disease (PDCS-01) — https://clinicaltrials.gov/study/NCT07267065
- **NCT02511015** [COMPLETED]: Hereditary Parkinson s Disease Natural History Protocol — https://clinicaltrials.gov/study/NCT02511015
- **NCT04148326** [WITHDRAWN]: A Pilot Study to Explore the Role of Gut Flora in Parkinson's Disease — https://clinicaltrials.gov/study/NCT04148326
- **NCT03234478** [COMPLETED]: Parkinson Disease and DBS: Cognitive Effects in GBA Mutation Carriers — https://clinicaltrials.gov/study/NCT03234478
- **NCT04722198** [UNKNOWN]: Effects of Lactobacillus Plantarum PS128 on Symptoms of Early-onset Parkinson's Disease: a Pilot Study — https://clinicaltrials.gov/study/NCT04722198
- **NCT04033393** [UNKNOWN]: Dual-task Performance in Young-onset PD — https://clinicaltrials.gov/study/NCT04033393
- **NCT01529970** [UNKNOWN]: Genetic Study in Young Onset Parkinson's Disease — https://clinicaltrials.gov/study/NCT01529970

## Doenças relacionadas (por similaridade fenotípica)

- [NÃO RARA NA EUROPA: Doença de Parkinson](https://raras.org/doenca/nao-rara-na-europa-doenca-de-parkinson) — ORPHA:319705 — 121 sintomas em comum
- [Síndrome de Kufor-Rakeb](https://raras.org/doenca/sindrome-de-kufor-rakeb) — ORPHA:306674 — 75 sintomas em comum
- [Doença de Parkinson hereditária com início tardio](https://raras.org/doenca/doenca-de-parkinson-hereditaria-com-inicio-tardio) — ORPHA:411602 — 53 sintomas em comum
- [Síndrome distonia-plus](https://raras.org/doenca/sindrome-distonia-plus) — ORPHA:98203 — 53 sintomas em comum
- [Neurodegenerescência associada a PLA2G6](https://raras.org/doenca/neurodegenerescencia-associada-a-pla2g6) — ORPHA:329303 — 46 sintomas em comum
- [Doença do metabolismo das aminas biogênicas](https://raras.org/doenca/doenca-do-metabolismo-das-aminas-biogenicas) — ORPHA:79169 — 43 sintomas em comum
- [Ataxia espástica](https://raras.org/doenca/ataxia-espastica) — ORPHA:316226 — 43 sintomas em comum
- [Distonia sensível à dopa](https://raras.org/doenca/distonia-sensivel-a-dopa) — ORPHA:255 — 40 sintomas em comum
- [Paresia supranuclear progressiva](https://raras.org/doenca/paresia-supranuclear-progressiva) — ORPHA:683 — 39 sintomas em comum
- [Paralisia oculomotora supranuclear](https://raras.org/doenca/paralisia-oculomotora-supranuclear) — ORPHA:98687 — 39 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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**Citação sugerida**: Raras.org — Doença de Parkinson de início juvenil. Disponível em: https://raras.org/doenca/doenca-de-parkinson-de-inicio-juvenil
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