Familial Alzheimer-like Prion Disease

Description

Familial Alzheimer-like prion disease is an exceedingly rare form of prion disease (see this term) characterized by the neuropathological features of Alzheimer disease including memory impairment and depression, related to abnormal prion protein (PrP) caused by a gene mutation in PRNP. Patients present with a prolonged, atypical course (absence of myoclonus or ataxia) unlike other forms of prion disease with severe neurofibrillary tangle pathology and high levels of cerebral amyloidosis.

Clinical Features

Top most frequent phenotypes and symptoms related to Familial Alzheimer-like Prion Disease

  • Cognitive impairment
  • Behavioral abnormality
  • Depressivity
  • Anxiety
  • Attention deficit hyperactivity disorder
  • Sleep disturbance
  • Specific learning disability
  • Emotional lability
  • Perseveration
  • Abdominal symptom

And another 2 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

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.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Familial Alzheimer-like Prion Disease Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Dementia.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

SORL1, TARDBP, VCP, FIG4, OPTN, TREM2, CSF1R, CHMP2B, DCTN1, C9orf72, FUS, ALS2, SETX, GRN, ANG, APOE, APP, MAPT, PRNP, PSEN1 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Genetic Prion Diseases.

By Center for Human Genetics Laboratory University Hospitals - University Hospitals Laboratory Service Foundation (United States).

PRNP
Specificity
100 %
Genes
100 %
Ataxia Exome Panel.

By Genetic Services Laboratory University of Chicago (United States).

BCS1L, RTN2, SACS, SCN1A, SCN2A, SCN8A, SCO1, SDHA, SDHD, SLC16A2, SLC17A5, SLC19A2, SLC1A3, SLC20A2, SLC2A1, SLC6A1, SLC9A1, SLC9A6, SNAP25, SOD1 , (...)

View the complete list with 457 more genes
Specificity
1 %
Genes
100 %
Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies, PMP22 Deletion/Duplication with Reflex to Sequencing Panel.

By ARUP Laboratories, Molecular Genetics and Genomics (United States).

SBF1, SCN9A, SLC12A6, SOX10, ATL1, SPTLC1, SPTLC2, TFG, YARS, PRX, SLC5A7, ARHGEF10, WNK1, BSCL2, GDAP1, TRIM2, CCT5, KIF1B, LITAF, FIG4 , (...)

View the complete list with 58 more genes
Specificity
2 %
Genes
100 %
Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies Panel, Sequencing.

By ARUP Laboratories, Molecular Genetics and Genomics (United States).

SBF1, SCN9A, SLC12A6, SOX10, ATL1, SPTLC1, SPTLC2, TFG, YARS, PRX, SLC5A7, ARHGEF10, WNK1, BSCL2, GDAP1, TRIM2, CCT5, KIF1B, LITAF, FIG4 , (...)

View the complete list with 58 more genes
Specificity
2 %
Genes
100 %
PRNP. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

PRNP
Specificity
100 %
Genes
100 %
PRNP. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

PRNP
Specificity
100 %
Genes
100 %
Familial Creutzfeldt-Jakob Disease (sequence analysis of PRNP gene).

By CGC Genetics (Portugal).

PRNP
Specificity
100 %
Genes
100 %

We have 41 more panels available in our App

Get the app

Sources and references

You can check the following sources for additional information.

ORPHANET Genetic Syndrome Finder

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like SPHEROCYTOSIS, TYPE 1; SPH1 X-LINKED SPASTICITY-INTELLECTUAL DISABILITY-EPILEPSY SYNDROME PEDIATRIC HEPATOCELLULAR CARCINOMA LUBS X-LINKED MENTAL RETARDATION SYNDROME; MRXSL

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more