# Doença de Parkinson hereditária com início tardio

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

## Identificadores

- **ORPHA**: 411602 — https://www.orpha.net/en/disease/detail/411602
- **CID-10**: G20
- **OMIM**: OMIM:168600 — https://omim.org/entry/168600

## Descrição clínica

Doença de Parkinson que começa a partir dos 50 anos.

## Epidemiologia e herança

- **Prevalência**: Unknown
- **Padrão de herança**: Autosomal dominant

## Sinais e sintomas (95 fenótipos HPO)

- **Tremor** — HPO: HP:0001337
- **Herança autossômica dominante** — HPO: HP:0000006
- **Hipotonia axial** — HPO: HP:0003745
- **HP:0003676** — HPO: HP:0003676
- **HP:0003584** — HPO: HP:0003584
- **HP:0003587** — HPO: HP:0003587
- **Início na idade adulta** — HPO: HP:0003581
- **Acúmulo de ferro no cérebro** — HPO: HP:0012675
- **Atraso global do desenvolvimento** — HPO: HP:0001263
- **Convulsão** — HPO: HP:0001250
- **Sacadas hipométricas** — HPO: HP:0000571
- **Delírio** — HPO: HP:0000746
- **Concentração anormal de creatina quinase circulante** — HPO: HP:0040081
- **Dislexia** — HPO: HP:0010522
- **Transtorno do movimento extrapiramidal progressivo** — HPO: HP:0007153
- **Atrofia/hipoplasia cerebral generalizada** — HPO: HP:0007058
- **Distonia focal** — HPO: HP:0004373
- **Paralisia do olhar supranuclear** — HPO: HP:0000605
- **Emaranhados neurofibrilares** — HPO: HP:0002185
- **Quadril rígido** — HPO: HP:0025262
- **Fácies em máscara** — HPO: HP:0000298
- **Voz fraca** — HPO: HP:0001621
- **Espasticidade** — HPO: HP:0001257
- **Paralisia do olhar supranuclear vertical** — HPO: HP:0000511
- **Apraxia da pálpebra** — HPO: HP:0000658
- **Comportamento agressivo** — HPO: HP:0000718
- **Incoordenação motora** — HPO: HP:0002312
- **Tremor de enrolar pílulas** — HPO: HP:0025387
- **Concentração elevada de creatina quinase circulante** — HPO: HP:0003236
- **Sacadas ascendentes hipométricas** — HPO: HP:0031833
- **Tiques faciais** — HPO: HP:0011468
- **Distonia axial** — HPO: HP:0002530
- **Atrofia cerebral frontotemporal** — HPO: HP:0006892
- **Tremor postural de membro superior** — HPO: HP:0007351
- **Mioclonia palpebral** — HPO: HP:0025097
- **Tremor na mão** — HPO: HP:0002378
- **Nictúria** — HPO: HP:0000017
- **Reflexos exaltados** — HPO: HP:0001348
- **Pernas inquietas** — HPO: HP:0012452
- **Hiperreflexia** — HPO: HP:0001347
- _...e mais 55 sintomas. Ver https://raras.org/doenca/doenca-de-parkinson-hereditaria-com-inicio-tardio._

## Genes associados (18)

- **LRRK2** — Leucine-rich repeat serine/threonine-protein kinase 2 [Disease-causing germline mutation(s) (gain of function) 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
- **SNCAIP** [MENDELIAN]
  - Função: Isoform 2 inhibits the ubiquitin ligase activity of SIAH1 and inhibits proteasomal degradation of target proteins. Isoform 2 inhibits autoubiquitination and proteasomal degradation of SIAH1, and there
- **NR4A2** — Nuclear receptor subfamily 4 group A member 2 [MENDELIAN]
  - Função: Transcriptional regulator which is important for the differentiation and maintenance of meso-diencephalic dopaminergic (mdDA) neurons during development (PubMed:15716272, PubMed:17184956). It is cruci
- **MT-TT** [MENDELIAN]
- **ATXN8OS** — Putative protein ATXN8OS [Candidate gene tested in]
- **ATXN2** — Ataxin-2 [Candidate gene tested in]
  - Função: Involved in EGFR trafficking, acting as negative regulator of endocytic EGFR internalization at the plasma membrane
- **MAPT** — Microtubule-associated protein tau [Candidate gene tested in]
  - Função: Promotes microtubule assembly and stability, and might be involved in the establishment and maintenance of neuronal polarity (PubMed:21985311). The C-terminus binds axonal microtubules while the N-ter
- **ADH1C** — Alcohol dehydrogenase 1C [Candidate gene tested in]
  - Função: Alcohol dehydrogenase. Exhibits high activity for ethanol oxidation and plays a major role in ethanol catabolism
- **TBP** — TATA-box-binding protein [Candidate gene tested in]
  - Função: The TFIID basal transcription factor complex plays a major role in the initiation of RNA polymerase II (Pol II)-dependent transcription (PubMed:33795473). TFIID recognizes and binds promoters with or
- **ATXN3** — Ataxin-3 [Candidate gene tested in]
  - Função: Deubiquitinating enzyme involved in protein homeostasis maintenance, transcription, cytoskeleton regulation, myogenesis and degradation of misfolded chaperone substrates (PubMed:12297501, PubMed:16118
- **CHCHD2** — Coiled-coil-helix-coiled-coil-helix domain-containing protein 2 [Disease-causing germline mutation(s) in]
  - Função: Transcription factor. Binds to the oxygen responsive element of COX4I2 and activates its transcription under hypoxia conditions (4% oxygen), as well as normoxia conditions (20% oxygen) (PubMed:2330378
- **PLA2G6** — 85/88 kDa calcium-independent phospholipase A2 [Disease-causing germline mutation(s) in]
  - Função: Calcium-independent phospholipase involved in phospholipid remodeling with implications in cellular membrane homeostasis, mitochondrial integrity and signal transduction. Hydrolyzes the ester bond of
- **DNAJC13** — DnaJ homolog subfamily C member 13 [Disease-causing germline mutation(s) (gain of function) in]
  - Função: Involved in membrane trafficking through early endosomes, such as the early endosome to recycling endosome transport implicated in the recycling of transferrin and the early endosome to late endosome
- **GBA1** — Lysosomal acid glucosylceramidase [Major susceptibility factor in]
  - Função: Glucosylceramidase that catalyzes, within the lysosomal compartment, the hydrolysis of glucosylceramides/GlcCers (such as beta-D-glucosyl-(1<->1')-N-acylsphing-4-enine) into free ceramides (such as N-
- **SNCA** — Alpha-synuclein [Disease-causing germline mutation(s) (gain of function) 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

## Ensaios clínicos ativos (1)

- **NCT06203106** [RECRUITING]: NYSCF Scientific Discovery Biobank — https://clinicaltrials.gov/study/NCT06203106

## 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 — 89 sintomas em comum
- [Neurodegenerescência associada a PLA2G6](https://raras.org/doenca/neurodegenerescencia-associada-a-pla2g6) — ORPHA:329303 — 60 sintomas em comum
- [Distonia-parkinsonismo de início no adulto](https://raras.org/doenca/distonia-parkinsonismo-de-inicio-no-adulto) — ORPHA:199351 — 53 sintomas em comum
- [Doença de Parkinson de início juvenil](https://raras.org/doenca/doenca-de-parkinson-de-inicio-juvenil) — ORPHA:2828 — 53 sintomas em comum
- [Paresia supranuclear progressiva](https://raras.org/doenca/paresia-supranuclear-progressiva) — ORPHA:683 — 35 sintomas em comum
- [Paralisia oculomotora supranuclear](https://raras.org/doenca/paralisia-oculomotora-supranuclear) — ORPHA:98687 — 35 sintomas em comum
- [Síndrome de Kufor-Rakeb](https://raras.org/doenca/sindrome-de-kufor-rakeb) — ORPHA:306674 — 33 sintomas em comum
- [Síndrome distonia-plus](https://raras.org/doenca/sindrome-distonia-plus) — ORPHA:98203 — 31 sintomas em comum
- [Neurodegenerescência associada a pantotenato quinase](https://raras.org/doenca/neurodegenerescencia-associada-a-pantotenato-quinase) — ORPHA:157850 — 28 sintomas em comum
- [Doença do metabolismo das aminas biogênicas](https://raras.org/doenca/doenca-do-metabolismo-das-aminas-biogenicas) — ORPHA:79169 — 28 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 hereditária com início tardio. Disponível em: https://raras.org/doenca/doenca-de-parkinson-hereditaria-com-inicio-tardio
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