Cognitive impairment, and Gliosis

Diseases related with Cognitive impairment and Gliosis

In the following list you will find some of the most common rare diseases related to Cognitive impairment and Gliosis that can help you solving undiagnosed cases.


Top matches:

Low match PICK DISEASE OF BRAIN


Pick disease refers to the neuropathologic finding of 'Pick bodies,' which are argyrophilic, intraneuronal inclusions, and 'Pick cells,' which are enlarged neurons. The clinical correlates of Pick disease of brain include those of frontotemporal dementia, which encompass the behavioral variant of FTD, semantic dementia, and progressive nonfluent aphasia (summary by Piguet et al., 2011).Kertesz (2003) suggested the term 'Pick complex' to represent the overlapping syndromes of FTD, primary progressive aphasia (PPA), corticobasal degeneration (CBD), progressive supranuclear palsy (OMIM ), and FTD with motor neuron disease. He noted that frontotemporal dementia may also be referred to as 'clinical Pick disease,' and that the term 'Pick disease' should be restricted to the pathologic finding of Pick bodies.

PICK DISEASE OF BRAIN Is also known as dementia with lobar atrophy and neuronal cytoplasmic inclusions|lobar atrophy of brain

Related symptoms:

  • Ventriculomegaly
  • Behavioral abnormality
  • Dementia
  • Cerebral cortical atrophy
  • Rigidity


SOURCES: MESH OMIM MENDELIAN

More info about PICK DISEASE OF BRAIN

Low match PARKINSON DISEASE 8, AUTOSOMAL DOMINANT; PARK8


Related symptoms:

  • Seizures
  • Cognitive impairment
  • Delayed speech and language development
  • Tremor
  • Dementia


SOURCES: OMIM MENDELIAN

More info about PARKINSON DISEASE 8, AUTOSOMAL DOMINANT; PARK8

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Other less relevant matches:

Low match PARKINSON DISEASE 4, AUTOSOMAL DOMINANT; PARK4


PARKINSON DISEASE 4, AUTOSOMAL DOMINANT; PARK4 Is also known as parkinson disease 4, autosomal dominant lewy body

Related symptoms:

  • Generalized hypotonia
  • Cognitive impairment
  • Tremor
  • Dementia
  • Weight loss


SOURCES: OMIM MESH MENDELIAN

More info about PARKINSON DISEASE 4, AUTOSOMAL DOMINANT; PARK4

Low match ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 2; IIAE2


Herpes simplex encephalitis (HSE) is a severe viral infection of the central nervous system (CNS) resulting most commonly from infection with HSV-1 and occasionally by HSV-2. The disease peaks in childhood between 3 months and 3 years of age, although later onset can also occur, and affected individuals usually have neurologic sequelae, including seizures and cognitive or motor impairment. Some individuals may have recurrences of an acute episode of HSE; however, patients have no clear susceptibility to infection to other viruses. The virus gains entry to the CNS through a neuronal route via the trigeminal or olfactory nerves, not via the blood. Replication of this enveloped double-stranded DNA (dsDNA) virus involves the production and accumulation of RNA species, including dsRNA, which are recognized by the intracellular TLR3 signaling pathway. The susceptibility to HSV in particular appears to result from impaired TLR3-dependent interferon production by nonhematopoietic cells that reside within the CNS (review by Zhang et al., 2013; summary by Mork et al., 2015).For a general phenotypic description of herpes simplex encephalitis and a discussion of genetic heterogeneity of acute infection-induced encephalopathy, see {610551}.

ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 2; IIAE2 Is also known as herpes simplex encephalitis, susceptibility to, 2

Related symptoms:

  • Intellectual disability
  • Seizures
  • Cognitive impairment
  • Fever
  • Vomiting


SOURCES: OMIM MENDELIAN

More info about ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 2; IIAE2

Low match NARCOLEPSY TYPE 1


Narcolepsy with cataplexy is a sleep disorder characterized by excessive day-time sleepiness associated with uncontrollable sleep urges and cataplexy (loss of muscle tone often triggered by pleasant emotions).

NARCOLEPSY TYPE 1 Is also known as g√Člineau disease|narcoleptic syndrome 1|narcolepsy-cataplexy

Related symptoms:

  • Neoplasm
  • Obesity
  • Hyperactivity
  • Abnormality of the eye
  • Paralysis


SOURCES: ORPHANET OMIM MENDELIAN

More info about NARCOLEPSY TYPE 1

Low match SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES


Related symptoms:

  • Ataxia
  • Dysarthria
  • Gait disturbance
  • Cerebral atrophy
  • Depressivity


SOURCES: MESH OMIM MENDELIAN

More info about SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES

Low match FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED


Clinically, FTLD-TDP is a type of frontotemporal dementia (see FTD; {600274}) which shows variable phenotypic expression, but most commonly presents with social, behavioral, or language deterioration, rather than memory or motor deficits. Other variations of the phenotype have been referred to as 'dysphasic disinhibition dementia' and 'primary progressive aphasia' (PPA) (Huey et al., 2006; Mukherjee et al., 2006; Mesulam et al., 2007). Some patients may present with a clinical diagnosis of Alzheimer disease (AD ) or Parkinson disease (PD ), which are part of the phenotypic spectrum of this disorder (Brouwers et al., 2007). Genetic Heterogeneity of FTLD-TDPThe specific presence of TDP43 (TARDBP )-positive inclusions on neuropathologic examination defines a genetically heterogeneous group of dementias known collectively as 'FTLD-TDP.' FTLD-TDP is a neuropathologic diagnosis; only about 20% of patients with this neuropathologic diagnosis have GRN mutations (review by Van Deerlin et al., 2010).TDP43-positive inclusions also occur in ALS10 (OMIM ), caused by mutation in the TARDBP gene (OMIM ); IBMPFD (OMIM ), caused by mutation in the VCP gene (OMIM ); and FTDALS (OMIM ), caused by mutation in the C9ORF72 gene (OMIM ).Mackenzie and Rademakers (2007) provided a detailed review of the molecular genetics of FTLD, with special emphasis on FTLDU. Cairns and Ghoshal (2010) reviewed the molecular pathology and genetic heterogeneity of FTLD, including FTLD-TDP, and also noted that FTLDU is now referred to as FTLD-TDP.

FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED Is also known as dementia, hereditary dysphasic disinhibition|ftld-tdp, grn-related|frontotemporal dementia with tdp43 inclusions, grn-related|ftldu|frontotemporal lobar degeneration with ubiquitin-positive inclusions|frontotemporal dementia, ubiquitin-positive|ftdu|hddd

Related symptoms:

  • Ataxia
  • Cognitive impairment
  • Tremor
  • Dysphagia
  • Behavioral abnormality


SOURCES: ORPHANET OMIM MENDELIAN

More info about FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED

Low match PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK6


PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK6 Is also known as parkinson disease 6, early-onset|park6

Related symptoms:

  • Pain
  • Cognitive impairment
  • Hyperreflexia
  • Tremor
  • Behavioral abnormality


SOURCES: OMIM MESH MENDELIAN

More info about PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK6

Low match PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE; PARK2


PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE; PARK2 Is also known as pdj|parkinson disease, juvenile, autosomal recessive|parkinsonism, early-onset, with diurnal fluctuation|epdf

Related symptoms:

  • Neoplasm
  • Peripheral neuropathy
  • Hyperreflexia
  • Tremor
  • Gait disturbance


SOURCES: OMIM MENDELIAN

More info about PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE; PARK2

Top 5 symptoms//phenotypes associated to Cognitive impairment and Gliosis

Symptoms // Phenotype % cases
Dementia Common - Between 50% and 80% cases
Neuronal loss in central nervous system Common - Between 50% and 80% cases
Rigidity Common - Between 50% and 80% cases
Lewy bodies Uncommon - Between 30% and 50% cases
Tremor Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cognitive impairment and Gliosis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Neurofibrillary tangles Parkinsonism Hallucinations Bradykinesia Senile plaques Frontotemporal dementia Alzheimer disease Postural instability Dystonia Mutism Abnormal autonomic nervous system physiology Hyperorality Akinesia Resting tremor Memory impairment Behavioral abnormality Paralysis Personality changes Apathy Cerebral cortical atrophy Mental deterioration Neurodegeneration Aphasia

Rare Symptoms - Less than 30% cases


Amyotrophic lateral sclerosis Astrocytosis Hypotension Ataxia Gait disturbance Cerebral atrophy Dysphagia Neoplasm Orthostatic hypotension Depressivity Anxiety Abnormal cerebellum morphology Paranoia Impulsivity Auditory hallucinations Encephalopathy CNS infection Hemiparesis Dysarthria Parkinsonism with favorable response to dopaminergic medication Perseveration Disinhibition Dyskinesia Seizures Polyphagia Language impairment Stereotypy Substantia nigra gliosis Hyperreflexia Apraxia Brain atrophy Peripheral axonal neuropathy Myoclonus Violent behavior Clumsiness Delusions Urinary incontinence Bowel incontinence Impaired vibratory sensation Abnormality of extrapyramidal motor function Agitation Aggressive behavior Sensory axonal neuropathy Olivopontocerebellar atrophy Hypnopompic hallucinations Sleep paralysis Limb ataxia Restlessness Global brain atrophy Urinary urgency Hypnagogic hallucinations Pain Repetitive compulsive behavior Diminished motivation Limb apraxia Progressive language deterioration Hypersexuality Bulimia Psychosis Hypomimic face Abnormality of movement Peripheral neuropathy Diabetes mellitus Dyscalculia Inappropriate behavior Dysgraphia Dilation of lateral ventricles Respiratory failure Dyslexia Dysphasia Paroxysmal drowsiness Ventriculomegaly Transient global amnesia Hyposmia Fever Intellectual disability Weight loss Generalized hypotonia Axonal loss Athetosis Drooling Involuntary movements Pallor Motor aphasia Shuffling gait Recurrent infections Hand tremor Postural tremor Intention tremor Delayed speech and language development Emotional blunting Semantic dementia Inappropriate laughter Primitive reflex Echolalia Irritability Vomiting EEG abnormality Abnormal rapid eye movement sleep Sleep disturbance Narcolepsy Cataplexy Excessive daytime sleepiness Hypersomnia Brain neoplasm Drowsiness Atonic seizures Slurred speech Abnormality of vision Syncope Abnormality of the eye Lethargy Hyperactivity Obesity Severe viral infection Homonymous hemianopia Herpes simplex encephalitis Encephalomalacia Hemianopia Encephalitis Meningitis Confusion Cogwheel rigidity



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