# Lipofuscinose ceroide neuronal

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

## Identificadores

- **ORPHA**: 216 — https://www.orpha.net/en/disease/detail/216
- **CID-10**: E75.4
- **OMIM**: none — https://omim.org/entry/none

## Descrição clínica

São um grupo de doenças cerebrais hereditárias (passadas de pais para filhos) que pioram com o tempo (progressivas) e causam a degeneração (destruição) das células do cérebro. Seus sintomas incluem a perda de habilidades mentais e outras capacidades, convulsões e a perda de visão devido à degeneração da retina (uma parte do olho). Quando analisadas em laboratório, o que se observa é o acúmulo de uma substância que brilha sozinha, chamada ceroide lipofuscina, dentro das células nervosas do cérebro e da retina.

## Epidemiologia e herança

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

## Sinais e sintomas (154 fenótipos HPO)

- **Cegueira** — HPO: HP:0000618
- **Distúrbio da marcha** — HPO: HP:0001288
- **Distonia** — HPO: HP:0001332
- **Tremor postural** — HPO: HP:0002174
- **Morfologia anormal do núcleo caudado** — HPO: HP:0002339
- **Fraqueza muscular** — HPO: HP:0001324
- **Bradicinesia** — HPO: HP:0002067
- **Parkinsonismo com resposta favorável à medicação dopaminérgica** — HPO: HP:0002548
- **Fadiga** — HPO: HP:0012378
- **Paralisia do olhar para cima** — HPO: HP:0025331
- **Anormalidade da fala ou vocalização** — HPO: HP:0002167
- **Comprometimento cognitivo** — HPO: HP:0100543
- **Dificuldade para ficar em pé** — HPO: HP:0003698
- **Marcha instável** — HPO: HP:0002317
- **Incapacidade de andar** — HPO: HP:0002540
- **Hiperintensidade da substância branca cerebral na ressonância magnética** — HPO: HP:0030890
- **Comportamento autista** — HPO: HP:0000729
- **Acúmulo intracelular de material de armazenamento de lipopigmento autofluorescente** — HPO: HP:0003204
- **EEG com frequências anormalmente lentas** — HPO: HP:0011203
- **EEG com descargas epileptiformes generalizadas** — HPO: HP:0011198
- **Palidez do disco óptico** — HPO: HP:0000543
- **Disfagia** — HPO: HP:0002015
- **Anormalidade dos potenciais evocados visuais por padrão** — HPO: HP:0030455
- **Alimentação por gastrostomia na infância** — HPO: HP:0011471
- **Instabilidade postural** — HPO: HP:0002172
- **Ataxia troncular progressiva** — HPO: HP:0007221
- **Deterioração psicomotora progressiva** — HPO: HP:0007272
- **EEG com descargas epileptiformes focais** — HPO: HP:0011185
- **Aplasia/Hipoplasia do corpo caloso** — HPO: HP:0007370
- **Ataxia cerebelar progressiva** — HPO: HP:0002073
- **Anormalidade da visão** — HPO: HP:0000504
- **Crise mioclônica focal** — HPO: HP:0011166
- **Descargas focais no EEG com generalização secundária** — HPO: HP:0011188
- **Mioclonia de membro** — HPO: HP:0045084
- **Convulsão febril (na faixa etária de 3 meses a 6 anos)** — HPO: HP:0002373
- **Convulsões fotomioclônicas** — HPO: HP:0001327
- **Mioclonia do queixo** — HPO: HP:0012462
- **Quedas frequentes** — HPO: HP:0002359
- **Comportamento atípico** — HPO: HP:0000708
- **Regressão motora** — HPO: HP:0033044
- _...e mais 114 sintomas. Ver https://raras.org/doenca/lipofuscinose-ceroide-neuronal._

## Genes associados (13)

- **KCTD7** — BTB/POZ domain-containing protein KCTD7 [Disease-causing germline mutation(s) in]
  - Função: May be involved in the control of excitability of cortical neurons
- **ATP13A2** — Polyamine-transporting ATPase 13A2 [Candidate gene tested 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
- **CLN8** — Protein CLN8 [Disease-causing germline mutation(s) in]
  - Função: Could play a role in cell proliferation during neuronal differentiation and in protection against cell death
- **TPP1** — Tripeptidyl-peptidase 1 [Disease-causing germline mutation(s) in]
  - Função: Lysosomal serine protease with tripeptidyl-peptidase I activity (PubMed:11054422, PubMed:19038966, PubMed:19038967). May act as a non-specific lysosomal peptidase which generates tripeptides from the
- **CTSF** — Cathepsin F [Disease-causing germline mutation(s) in]
  - Função: Thiol protease which is believed to participate in intracellular degradation and turnover of proteins. Has also been implicated in tumor invasion and metastasis
- **CTSD** — Cathepsin D [Disease-causing germline mutation(s) in]
  - Função: Acid protease active in intracellular protein breakdown. Plays a role in APP processing following cleavage and activation by ADAM30 which leads to APP degradation (PubMed:27333034). Involved in the pa
- **CLN3** — Battenin [Disease-causing germline mutation(s) in]
  - Função: Mediates microtubule-dependent, anterograde transport connecting the Golgi network, endosomes, autophagosomes, lysosomes and plasma membrane, and participates in several cellular processes such as reg
- **CLN5** — Bis(monoacylglycero)phosphate synthase CLN5 [Disease-causing germline mutation(s) in]
  - Função: Catalyzes the synthesis of bis(monoacylglycero)phosphate (BMP) via transacylation of 2 molecules of lysophosphatidylglycerol (LPG) (PubMed:37708259). BMP also known as lysobisphosphatidic acid plays a
- **DNAJC5** — DnaJ homolog subfamily C member 5 [Disease-causing germline mutation(s) in]
  - Função: Acts as a general chaperone in regulated exocytosis (By similarity). Acts as a co-chaperone for the SNARE protein SNAP-25 (By similarity). Involved in the calcium-mediated control of a late stage of e
- **MFSD8** — Major facilitator superfamily domain-containing protein 8 [Disease-causing germline mutation(s) in]
  - Função: Outward-rectifying chloride channel involved in endolysosomal chloride homeostasis, membrane fusion and function. Conducts chloride currents up to hundreds of picoamperes. Regulates lysosomal calcium
- **GRN** — Progranulin [Disease-causing germline mutation(s) in]
  - Função: Secreted protein that acts as a key regulator of lysosomal function and as a growth factor involved in inflammation, wound healing and cell proliferation (PubMed:12526812, PubMed:18378771, PubMed:2807
- **PPT1** — Palmitoyl-protein thioesterase 1 [Disease-causing germline mutation(s) in]
  - Função: Has thioesterase activity against fatty acid thioesters with 14 -18 carbons, including palmitoyl-CoA, S-palmitoyl-N-acetylcysteamine, and palmitoylated proteins (PubMed:12855696, PubMed:26731412, PubM
- **CLN6** — Ceroid-lipofuscinosis neuronal protein 6 [Disease-causing germline mutation(s) in]

## Medicamentos em desenvolvimento (2)

- MYCOPHENOLATE MOFETIL — Fase Phase 2 (Inosine-5'-monophosphate dehydrogenase (IMPDH) inhibitor)
- MIGLUSTAT — Fase Phase 1 (Ceramide glucosyltransferase inhibitor)
- Fonte: https://platform.opentargets.org/disease/MONDO_0016295

## Ensaios clínicos ativos (12)

- **NCT06844877** [RECRUITING]: Italian NCL Registry: a Registry for NCL as an Integration Tool for Future Therapeutic Strategies — https://clinicaltrials.gov/study/NCT06844877
- **NCT03307304** [RECRUITING]: Investigations of Juvenile Neuronal Ceroid Lipofuscinosis — https://clinicaltrials.gov/study/NCT03307304
- **NCT05791864** [RECRUITING]: A First-in-Human, Open-Label, Dose-Escalation Study to Evaluate the Safety and Tolerability of Gene Therapy With TTX-381 for the Ocular Manifestations Associated With Neuronal Ceroid Lipofuscinosis Type 2 (CLN2) Disease — https://clinicaltrials.gov/study/NCT05791864
- **NCT01873924** [RECRUITING]: Clinical and Neuropsychological Investigations in Batten Disease — https://clinicaltrials.gov/study/NCT01873924
- **NCT04613089** [RECRUITING]: Natural History and Longitudinal Clinical Assessments in NCL / Batten Disease, the International DEM-CHILD Database — https://clinicaltrials.gov/study/NCT04613089
- **NCT03862274** [ENROLLING_BY_INVITATION]: Examining Developmental Outcomes of Children Diagnosed With CLN2 Disease — https://clinicaltrials.gov/study/NCT03862274
- **NCT05368038** [ENROLLING_BY_INVITATION]: ScreenPlus: A Comprehensive, Flexible, Multi-disorder Newborn Screening Program — https://clinicaltrials.gov/study/NCT05368038
- **NCT04098211** [ACTIVE_NOT_RECRUITING]: Longitudinal Assessment of Atypical Tripeptidyl Peptidase 1 Enzyme Deficiency Patients — https://clinicaltrials.gov/study/NCT04098211
- **NCT04476862** [ACTIVE_NOT_RECRUITING]: Cerliponase Alfa Observational Study in the US — https://clinicaltrials.gov/study/NCT04476862
- **NCT05152914** [ACTIVE_NOT_RECRUITING]: Intravitreal ERT to Prevent Retinal Disease Progression in Children With CLN2 — https://clinicaltrials.gov/study/NCT05152914

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- [Deficiência de complexo III isolada](https://raras.org/doenca/deficiencia-de-complexo-iii-isolada) — ORPHA:1460 — 47 sintomas em comum
- [Síndrome epiléptico de início neonatal-infantil](https://raras.org/doenca/sindrome-epileptico-de-inicio-neonatal-infantil) — ORPHA:693802 — 46 sintomas em comum
- [Neurodegenerescência associada a PLA2G6](https://raras.org/doenca/neurodegenerescencia-associada-a-pla2g6) — ORPHA:329303 — 45 sintomas em comum
- [Epilepsia mioclônica progressiva com neuroserpina nos corpos de inclusão](https://raras.org/doenca/epilepsia-mioclonica-progressiva-com-neuroserpina-nos-corpos-de-inclusao) — ORPHA:530298 — 45 sintomas em comum

## Importante

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Pacientes devem consultar profissionais de saúde qualificados para decisões clínicas.

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