From HPO
Aphasia- MedGen UID:
- 8159
- •Concept ID:
- C0003537
- •
- Mental or Behavioral Dysfunction
An acquired language impairment of some or all of the abilities to produce or comprehend speech and to read or write.
Apraxia- MedGen UID:
- 8166
- •Concept ID:
- C0003635
- •
- Mental or Behavioral Dysfunction
A defect in the understanding of complex motor commands and in the execution of certain learned movements, i.e., deficits in the cognitive components of learned movements.
Gliosis- MedGen UID:
- 4899
- •Concept ID:
- C0017639
- •
- Pathologic Function
Gliosis is the focal proliferation of glial cells in the central nervous system.
Hallucinations- MedGen UID:
- 6709
- •Concept ID:
- C0018524
- •
- Mental or Behavioral Dysfunction
Perceptions in a conscious and awake state that, in the absence of external stimuli, have qualities of real perception. These perceptions are vivid, substantial, and located in external objective space.
Polyphagia- MedGen UID:
- 9369
- •Concept ID:
- C0020505
- •
- Finding
A neurological anomaly with gross overeating associated with an abnormally strong desire or need to eat.
Impulse control disorder- MedGen UID:
- 5769
- •Concept ID:
- C0021122
- •
- Mental or Behavioral Dysfunction
Reduced ability to control, or a failure to resist a temptation, urge, or impulse. Examples include disregard for social conventions, general impulsivity, and poor risk assessment.
Mutism- MedGen UID:
- 6476
- •Concept ID:
- C0026884
- •
- Disease or Syndrome
Inability to speak or communicate verbally past the age of typical language development.
Lewy bodies- MedGen UID:
- 43126
- •Concept ID:
- C0085200
- •
- Cell Component
Intracytoplasmic, eosinophilic, round to elongated inclusions found in vacuoles of injured or fragmented neurons. The presence of Lewy bodies is the histological marker of the degenerative changes in LEWY BODY DISEASE and PARKINSON DISEASE but they may be seen in other neurological conditions. They are typically found in the substantia nigra and locus coeruleus but they are also seen in the basal forebrain, hypothalamic nuclei, and neocortex.
Neurofibrillary tangles- MedGen UID:
- 39273
- •Concept ID:
- C0085400
- •
- Finding
Pathological protein aggregates formed by hyperphosphorylation of a microtubule-associated protein known as tau, causing it to aggregate in an insoluble form.
Agitation- MedGen UID:
- 88447
- •Concept ID:
- C0085631
- •
- Sign or Symptom
A state of extreme restlessness and excessive motor activity is associated with mental distress or a feeling of inner tension.
Apathy- MedGen UID:
- 39083
- •Concept ID:
- C0085632
- •
- Mental or Behavioral Dysfunction
Apathy is a quantitative reduction of motivation and the initiation and persistence of goal-directed behavior, where the accompanying emotions, thoughts, and social interactions are also suppressed.
Perseverative thought- MedGen UID:
- 66686
- •Concept ID:
- C0233651
- •
- Mental or Behavioral Dysfunction
Manifestations of perseverative thoughts are behaviors that do not meet the demands of the situation, are not the product of deliberation, and may unfold despite counter intention.
Memory impairment- MedGen UID:
- 68579
- •Concept ID:
- C0233794
- •
- Mental or Behavioral Dysfunction
An impairment of memory as manifested by a reduced ability to remember things such as dates and names, and increased forgetfulness.
Personality changes- MedGen UID:
- 66817
- •Concept ID:
- C0240735
- •
- Mental or Behavioral Dysfunction
An abnormal shift in patterns of thinking, acting, or feeling.
Parkinsonian disorder- MedGen UID:
- 66079
- •Concept ID:
- C0242422
- •
- Disease or Syndrome
Characteristic neurologic anomaly resulting from degeneration of dopamine-generating cells in the substantia nigra, a region of the midbrain, characterized clinically by shaking, rigidity, slowness of movement and difficulty with walking and gait.
Hypersexuality- MedGen UID:
- 137208
- •Concept ID:
- C0312420
- •
- Mental or Behavioral Dysfunction
Pathological persistent sexual disinhibiting behavior, directed towards oneself or others.
Frontotemporal dementia- MedGen UID:
- 83266
- •Concept ID:
- C0338451
- •
- Disease or Syndrome
Frontotemporal dementia (FTD) refers to a clinical manifestation of the pathologic finding of frontotemporal lobar degeneration (FTLD). FTD, the most common subtype of FTLD, is a behavioral variant characterized by changes in social and personal conduct with loss of volition, executive dysfunction, loss of abstract thought, and decreased speech output. A second clinical subtype of FTLD is 'semantic dementia,' characterized by specific loss of comprehension of language and impaired facial and object recognition. A third clinical subtype of FTLD is 'primary progressive aphasia' (PPA), characterized by a reduction in speech production, speech errors, and word retrieval difficulties resulting in mutism and an inability to communicate. All subtypes have relative preservation of memory, at least in the early stages. FTLD is often associated with parkinsonism or motor neuron disease (MND) resembling amyotrophic lateral sclerosis (ALS; 105400) (reviews by Tolnay and Probst, 2002 and Mackenzie and Rademakers, 2007). Mackenzie et al. (2009, 2010) provided a classification of FTLD subtypes according to the neuropathologic findings (see PATHOGENESIS below).
Clinical Variability of Tauopathies
Tauopathies comprise a clinically variable group of neurodegenerative diseases characterized neuropathologically by accumulation of abnormal MAPT-positive inclusions in nerve and/or glial cells. In addition to frontotemporal dementia, semantic dementia, and PPA, different clinical syndromes with overlapping features have been described, leading to confusion in the terminology (Tolnay and Probst, 2002). Other terms used historically include parkinsonism and dementia with pallidopontonigral degeneration (PPND) (Wszolek et al., 1992); disinhibition-dementia-parkinsonism-amyotrophy complex (DDPAC) (Lynch et al., 1994); frontotemporal dementia with parkinsonism (FLDEM) (Yamaoka et al., 1996); and multiple system tauopathy with presenile dementia (MSTD) (Spillantini et al., 1997). These disorders are characterized by variable degrees of frontal lobe dementia, parkinsonism, motor neuron disease, and amyotrophy.
Other neurodegenerative associated with mutations in the MAPT gene include Pick disease (172700) and progressive supranuclear palsy (PSP; 601104),
Inherited neurodegenerative tauopathies linked to chromosome 17 and caused by mutation in the MAPT gene have also been collectively termed 'FTDP17' (Lee et al., 2001).
Kertesz (2003) suggested the term 'Pick complex' to represent the overlapping syndromes of FTD, primary progressive aphasia (PPA), corticobasal degeneration (CBD), PSP, 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.
Genetic Heterogeneity of Frontotemporal Lobar Degeneration
Mutations in several different genes can cause frontotemporal dementia and frontotemporal lobar degeneration, with or without motor neuron disease. See FTLD with TDP43 inclusions (607485), caused by mutation in the GRN gene (138945) on chromosome 17q21; FTLALS7 (600795), caused by mutation in the CHMP2B gene (609512) on chromosome 3p11; inclusion body myopathy with Paget disease and FTD (IBMPFD; 167320), caused by mutation in the VCP gene (601023) on chromosome 9p13; ALS6 (608030), caused by mutation in the FUS gene (137070) on 16p11; ALS10 (612069), caused by mutation in the TARDBP gene (605078) on 1p36; and FTDALS1 (105550), caused by mutation in the C9ORF72 gene (614260) on 9p21.
In 1 family with FTD, a mutation was identified in the presenilin-1 gene (PSEN1; 104311) on chromosome 14, which is usually associated with a familial form of early-onset Alzheimer disease (AD3; 607822).
Hyperorality- MedGen UID:
- 325386
- •Concept ID:
- C1838320
- •
- Finding
Hyperorality is a condition characterized by an excessive preoccupation with oral sensations and behaviors, such as chewing, sucking, biting, swallowing, and excessive mouthing of objects.
Progressive language deterioration- MedGen UID:
- 334494
- •Concept ID:
- C1843793
- •
- Finding
Progressive loss of previously present language abilities.
Neuronal loss in central nervous system- MedGen UID:
- 342515
- •Concept ID:
- C1850496
- •
- Finding
Lateral ventricle dilatation- MedGen UID:
- 383904
- •Concept ID:
- C1856409
- •
- Pathologic Function
Repetitive compulsive behavior- MedGen UID:
- 409891
- •Concept ID:
- C1969697
- •
- Mental or Behavioral Dysfunction
Cerebral cortical atrophy- MedGen UID:
- 1646740
- •Concept ID:
- C4551583
- •
- Disease or Syndrome
Atrophy of the cortex of the cerebrum.
- Abnormality of the nervous system