Leukoencephalopathy, diffuse hereditary, with spheroids 1
- Synonyms
- CSF1R-Related Hereditary Diffuse Leukoencephalopathy with Spheroids; DEMENTIA, FAMILIAL, NEUMANN TYPE; Gliosis, familial progressive subcortical; SUBCORTICAL GLIOSIS OF NEUMANN
- Modes of inheritance
- Autosomal dominant inheritance (Orphanet)
Summary
Excerpted from the GeneReview:- Full text of GeneReview (by section):
- Summary
- GeneReview Scope
- Diagnosis
- Clinical Characteristics
- Genetically Related (Allelic) Disorders
- Differential Diagnosis
- Management
- Genetic Counseling
- Resources
- Molecular Genetics
- Chapter Notes
- References
- Authors:
- Jaroslaw Dulski
- Christina Sundal
- Zbigniew K Wszolek
- view full author information
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (7 available)
Clinical features
Help- Abnormality of the digestive system
- Dysphagia
Dysphagia
- MedGen UID: 41440
- Concept ID: C0011168
- Finding: Disease or Syndrome
Abnormality of the digestive system
- Dysphagia
- Abnormality of the musculoskeletal system
- Rigidity
Rigidity
- MedGen UID: 7752
- Concept ID: C0026837
- Finding: Sign or Symptom
Abnormality of the musculoskeletal system
- Rigidity
- Abnormality of the nervous system
- Abnormal cerebral white matter morphology
Abnormal cerebral white matter morphology
- MedGen UID: 181756
- Concept ID: C0948163
- Finding: Pathologic Function
Abnormality of the nervous system
- Apraxia
Apraxia
- MedGen UID: 8166
- Concept ID: C0003635
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Atypical behavior
Atypical behavior
- MedGen UID: 535345
- Concept ID: C0233514
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Auditory hallucination
Auditory hallucination
- MedGen UID: 115932
- Concept ID: C0233762
- Finding: Sign or Symptom
Abnormality of the nervous system
- Bradykinesia
Bradykinesia
- MedGen UID: 115925
- Concept ID: C0233565
- Finding: Sign or Symptom
Abnormality of the nervous system
- CNS demyelination
CNS demyelination
- MedGen UID: 137898
- Concept ID: C0338474
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Central nervous system axonal spheroid
Central nervous system axonal spheroid
- MedGen UID: 1815105
- Concept ID: C5706199
- Finding: Finding
Abnormality of the nervous system
- Corpus callosum atrophy
Corpus callosum atrophy
- MedGen UID: 96560
- Concept ID: C0431370
- Finding: Finding
Abnormality of the nervous system
- Delusion
Delusion
- MedGen UID: 3715
- Concept ID: C0011253
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Depression
Depression
- MedGen UID: 4229
- Concept ID: C0011581
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Dysarthria
Dysarthria
- MedGen UID: 8510
- Concept ID: C0013362
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Frontal lobe dementia
Frontal lobe dementia
- MedGen UID: 572577
- Concept ID: C0338455
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Gait disturbance
Gait disturbance
- MedGen UID: 107895
- Concept ID: C0575081
- Finding: Finding
Abnormality of the nervous system
- Gliosis
Gliosis
- MedGen UID: 4899
- Concept ID: C0017639
- Finding: Pathologic Function
Abnormality of the nervous system
- Global brain atrophy
Global brain atrophy
- MedGen UID: 66840
- Concept ID: C0241816
- Finding: Pathologic Function
Abnormality of the nervous system
- Hyperreflexia
Hyperreflexia
- MedGen UID: 57738
- Concept ID: C0151889
- Finding: Finding
Abnormality of the nervous system
- Impaired executive functioning
Impaired executive functioning
- MedGen UID: 1617231
- Concept ID: C4544271
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Leukoencephalopathy
Leukoencephalopathy
- MedGen UID: 78722
- Concept ID: C0270612
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Memory impairment
Memory impairment
- MedGen UID: 68579
- Concept ID: C0233794
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Mental deterioration
Mental deterioration
- MedGen UID: 66713
- Concept ID: C0234985
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Mutism
Mutism
- MedGen UID: 6476
- Concept ID: C0026884
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Neuronal loss in central nervous system
Neuronal loss in central nervous system
- MedGen UID: 342515
- Concept ID: C1850496
- Finding: Finding
Abnormality of the nervous system
- Parkinsonian disorder
Parkinsonian disorder
- MedGen UID: 66079
- Concept ID: C0242422
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Postural instability
Postural instability
- MedGen UID: 334529
- Concept ID: C1843921
- Finding: Finding
Abnormality of the nervous system
- Seizure
Seizure
- MedGen UID: 20693
- Concept ID: C0036572
- Finding: Sign or Symptom
Abnormality of the nervous system
- Shuffling gait
Shuffling gait
- MedGen UID: 68545
- Concept ID: C0231688
- Finding: Finding
Abnormality of the nervous system
- Somatic sensory dysfunction
Somatic sensory dysfunction
- MedGen UID: 1790456
- Concept ID: C5551413
- Finding: Finding
Abnormality of the nervous system
- Spasticity
Spasticity
- MedGen UID: 7753
- Concept ID: C0026838
- Finding: Sign or Symptom
Abnormality of the nervous system
- Abnormal cerebral white matter morphology
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