Hereditary Late-onset Parkinson Disease

Description

Hereditary late-onset Parkinson disease (LOPD) is a form of Parkinson disease (PD), characterized by an age of onset of more than 50 years, tremor at rest, gait complaints and falls, bradykinesia, rigidity and painful cramps. Patients usually present a low risk of developing non motor symptoms, dystonia, dyskinesia and levodopa-induced dyskinesia (LID).

Clinical Features

Top most frequent phenotypes and symptoms related to Hereditary Late-onset Parkinson Disease

  • Dysphagia
  • Dystonia
  • Depressivity
  • Dementia
  • Cerebral cortical atrophy
  • Weight loss
  • Rigidity
  • Mental deterioration
  • Dyskinesia
  • Sleep disturbance

And another 24 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Hereditary Late-onset Parkinson Disease Is also known as autosomal dominant late-onset parkinson disease, lopd.

Researches and researchers

Doctors, researchs, and experts related to Hereditary Late-onset Parkinson Disease extracted from public data.

Hereditary Late-onset Parkinson Disease Experts map



Current Researchs and researchers

  • INNSBRUCK — Pr Gregor WENNING

    Coordinator of expert centre - Clinical expert - Principal investigator of clinical trial - Investigator of research project - Director of department

    • Institution/s:
      — Medizinische Universität Innsbruck
      — Universitätsklinik für Neurologie, Medizinische Universität Innsbruck
    • Research area/topic::

      MULTISYN: Multimodal Imaging of rare Synucleinopathies - AT


  • BONN — Pr Michael HENEKA

    Coordinator of expert centre - Clinical expert - Investigator of research project

    • Institution/s:
      — Universitätsklinikum Bonn
      — DZNE-Standort Bonn
    • Research area/topic::

      JPND - SYNACTION: Analysis of the pathophysiological role of alpha-synuclein aggregation, transport and neuroinflammation in neurodegeneration


  • MÜNCHEN — Pr Armin GIESE

    Responsible for diagnostic tests - Investigator of research project - Manager of biobank/collection - Coordinator of biobank network

    • Institution/s:
      — Zentrum für Neuropathologie und Prionforschung (ZNP)
    • Research area/topic::

      MULTISYN: Multimodal Imaging of rare Synucleinopathies -DE-


  • TÜBINGEN — Dr Holm GRAESSNER

    Investigator of research project - Coordinator of expert centre network - Coordinator of research network

    • Institution/s:
      — Institut für Medizinische Genetik und angewandte Genomik Tübingen
    • Research area/topic::

      MULTISYN: Multimodal Imaging of rare Synucleinopathies


  • TÜBINGEN — Pr Thomas GASSER

    Coordinator of expert centre - Clinical expert - Responsible for diagnostic tests - Investigator of research project - Manager of registry - Manager of biobank/collection - Coordinator of research network - Director of laboratory - Director of department

    • Institution/s:
      — Zentrum für Neurologie, Hertie-Institut für klinische Hirnforschung (HIH)
      — Zentrum für Neurologie, Hertie-Institut für klinische Hirnforschung (HIH)
      — Zentrum für Neurologie, Hertie-Institut für klinische Hirnforschung (HIH)
      — Zentrum für Neurologie, Hertie-Institut für klinische Hirnforschung (HIH)
    • Research area/topic::

      MULTISYN: Multimodal Imaging of rare Synucleinopathies -DE-


  • TÜBINGEN — Pr Philipp J KAHLE

    Investigator of research project - Director of laboratory

    • Institution/s:
      — Zentrum für Neurologie, Hertie-Institut für klinische Hirnforschung (HIH)
    • Research area/topic::

      Characterization and behavioural consequences of alpha-Synucleinopathies in transgenic mice


  • TRENTO — Dr Giovanni PICCOLI

    Investigator of research project

    • Institution/s:
      — Centro Interdipartimentale per la Biologia Integrata, Università di Trento
    • Research area/topic::

      Parkinson's disease at the synaptic site: short and long term impact of pathological LRRK2 kinase activity


  • ESPLUGUES DE LLOBREGAT — Pr Francesc PALAU

    Clinical geneticist - Genetic counsellor - Investigator of research project - Manager of biobank/collection - Coordinator of research network - Director of department

    • Institution/s:
      — Servicio de Neurología, Hospital Sant Joan de Déu Barcelona
      — Hospital Sant Joan de Déu Barcelona
      — Departamento de Genómica y Proteómica, Instituto de Biomedicina de Valencia (CSIC)
      — Servicio de Medicina Genética y Molecular, Hospital Sant Joan de Déu Barcelona
      — Hospital Sant Joan de Déu Barcelona
      — ISCIII - Instituto de Salud Carlos III
    • Research area/topic::

      Connection between rare diseases and common diseases: dysfunction of copper homeostasis and mitochondria as a model


  • MADRID — Pr Francesc PALAU

    Clinical geneticist - Genetic counsellor - Investigator of research project - Manager of biobank/collection - Coordinator of research network - Director of department

    • Institution/s:
      — Servicio de Neurología, Hospital Sant Joan de Déu Barcelona
      — Hospital Sant Joan de Déu Barcelona
      — Departamento de Genómica y Proteómica, Instituto de Biomedicina de Valencia (CSIC)
      — Servicio de Medicina Genética y Molecular, Hospital Sant Joan de Déu Barcelona
      — Hospital Sant Joan de Déu Barcelona
      — ISCIII - Instituto de Salud Carlos III
    • Research area/topic::

      Connection between rare diseases and common diseases: dysfunction of copper homeostasis and mitochondria as a model


  • VALENCIA — Pr Francesc PALAU

    Clinical geneticist - Genetic counsellor - Investigator of research project - Manager of biobank/collection - Coordinator of research network - Director of department

    • Institution/s:
      — Servicio de Neurología, Hospital Sant Joan de Déu Barcelona
      — Hospital Sant Joan de Déu Barcelona
      — Departamento de Genómica y Proteómica, Instituto de Biomedicina de Valencia (CSIC)
      — Servicio de Medicina Genética y Molecular, Hospital Sant Joan de Déu Barcelona
      — Hospital Sant Joan de Déu Barcelona
      — ISCIII - Instituto de Salud Carlos III
    • Research area/topic::

      Connection between rare diseases and common diseases: dysfunction of copper homeostasis and mitochondria as a model



Mendelian

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Hereditary Late-onset Parkinson Disease Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Ashkenazic Genetic Disease Screen (with Cystic Fibrosis).

By Baylor Miraca Genetics Laboratories (United States).

SMPD1, FANCC, GBA, ELP1, ASPA
Specificity
20 %
Genes
15 %
Ashkenazic Genetic Disease Screen (without Cystic Fibrosis).

By Baylor Miraca Genetics Laboratories (United States).

SMPD1, FANCC, GBA, ELP1, ASPA
Specificity
20 %
Genes
15 %
Gaucher Disease Ashkenazic Mutation Panel.

By Baylor Miraca Genetics Laboratories (United States).

GBA
Specificity
100 %
Genes
15 %
GeneAware Complete Panel Version 2 (Female).

By Baylor Miraca Genetics Laboratories (United States).

RMRP, BCS1L, SACS, BLM, SGCA, SGCB, SGCG, SGSH, SLC12A6, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC26A2, SLC35A3, SLC7A7, SMN1, SMPD1, BTD, BTK , (...)

View the complete list with 139 more genes
Specificity
1 %
Genes
15 %
GeneAware Complete Panel Version 2 (Male).

By Baylor Miraca Genetics Laboratories (United States).

RMRP, BCS1L, SACS, BLM, SGCA, SGCB, SGCG, SGSH, SLC12A6, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC26A2, SLC35A3, SLC7A7, SMN1, SMPD1, BTD, TGM1 , (...)

View the complete list with 129 more genes
Specificity
1 %
Genes
15 %
GeneAware Ashkenazi Jewish Panel Version 2 (Female).

By Baylor Miraca Genetics Laboratories (United States).

BLM, SLC35A3, SMN1, SMPD1, CLRN1, MCOLN1, PCDH15, RTEL1, CFTR, SUMF1, DHDDS, ADAMTS2, COL4A3, CPT2, TMEM216, DHCR7, DLD, DMD, FAH, FANCC , (...)

View the complete list with 19 more genes
Specificity
3 %
Genes
15 %
GeneAware ACMG/ACOG Panel Version 2 (Male).

By Baylor Miraca Genetics Laboratories (United States).

BLM, SMN1, SMPD1, MCOLN1, CFTR, FANCC, GBA, HBA1, HBA2, HBB, HEXA, ELP1, ASPA
Specificity
8 %
Genes
15 %
GeneAware Ashkenazi Jewish Panel Version 2 (Male).

By Baylor Miraca Genetics Laboratories (United States).

BLM, SLC35A3, SMN1, SMPD1, CLRN1, MCOLN1, PCDH15, RTEL1, CFTR, SUMF1, DHDDS, ADAMTS2, COL4A3, CPT2, TMEM216, DHCR7, DLD, FAH, FANCC, FKTN , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
15 %

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Sources and references

You can check the following sources for additional information.

ORPHANET Rare Disease Search Engine

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