"DWI: small spots of diffusion restriction, that can be persistently visible over months 13"
"CSF1R-related leukoencephalopathy, also known as adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP), refers to a rare inherited autosomal dominant disease characterised by an adult-onset leukodystrophy that usually leads to death in around 5-7 years. It is considered to belong to the microgliopathies."
"For many years hereditary diffuse leukoencephalopathy with spheroids (HDLS) and pigmentary orthochromatic leukodystrophy (POLD) were considered to be two separate hereditary leukoencephalopathies. Sometimes HDLS was also called neuroaxonal leukodystrophy. The striking similarities in clinical presentation and histology suggested a link between the two diseases for a long time and contemporary literature considers HDLS and POLD to be part of the same disease spectrum, which researchers then recommended calling adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) 1. With a genetic cause subsequently identified, the condition has hence been termed CSF1R-related leukoencephalopathy."
"CSF1R-related leukoencephalopathy is considered a rare disease, typically manifesting between ages 30 and 50 years, with a median age of onset of 43 years 13. Its exact prevalence is unknown, as it has been previously mistaken for many other diseases and it might thus continue to be underdiagnosed."
"Patients with CSF1R-related leukoencephalopathy can have a wide variety of symptoms that exhibit progression and lead to death within a median of ~7 years 13."
"CSF1R-related leukoencephalopathy is caused by autosomal dominantly inherited mutations in the colony-stimulating factor 1 receptor (CSF1R) gene 13."
"increased myo-inositol"
"The main differential for CSF1R-related leukoencephalopathy is leukoencephalopathy due to autosomal recessive mutations in the mitochondrial alanyl-transfer RNA (tRNA) synthetase gene (AARS2-L), another adult-onset leukodystrophy with similar pathologic findings. The clinical presentation and imaging findings in AARS2-L strongly resemble those of CSF1R-related leukoencephalopathy, but there are subtle differences 8,9."
"For many years hereditary diffuse leukoencephalopathy with spheroids (HDLS) and pigmentary orthochromatic leukodystrophy (POLD) were considered to be two separate hereditary leukoencephalopathies. Sometimes HDLS was also called neuroaxonal leukodystrophy. The striking similarities in clinical presentation and histology suggested a link between the two diseases for a long time and contemporary literature considers HDLS and POLD to be part of the same disease spectrum, which researchers then recommended calling adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) 1. With a genetic cause subsequently identified, the condition has hence been termed CSF1R-related leukoencephalopathy."
"For many years hereditary diffuse leukoencephalopathy with spheroids (HDLS) and pigmentary orthochromatic leukodystrophy (POLD) were considered to be two separate hereditary leukoencephalopathies. Sometimes HDLS was also called neuroaxonal leukodystrophy. The striking similarities in clinical presentation and histology suggested a link between the two diseases for a long time and contemporary literature considers HDLS and POLD to be part of the same disease spectrum, which researchers then recommended calling adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) 1. With a genetic cause subsequently identified, the condition has hence been termed CSF1R-related leukoencephalopathy."
"For many years hereditary diffuse leukoencephalopathy with spheroids (HDLS) and pigmentary orthochromatic leukodystrophy (POLD) were considered to be two separate hereditary leukoencephalopathies. Sometimes HDLS was also called neuroaxonal leukodystrophy. The striking similarities in clinical presentation and histology suggested a link between the two diseases for a long time and contemporary literature considers HDLS and POLD to be part of the same disease spectrum, which researchers then recommended calling adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) 1. With a genetic cause subsequently identified, the condition has hence been termed CSF1R-related leukoencephalopathy."
"DWI: small spots of diffusion restriction, that can be persistently visible over months 13"
"T1 C+ (Gd): no enhancement"
"The main differential for CSF1R-related leukoencephalopathy is leukoencephalopathy due to autosomal recessive mutations in the mitochondrial alanyl-transfer RNA (tRNA) synthetase gene (AARS2-L), another adult-onset leukodystrophy with similar pathologic findings. The clinical presentation and imaging findings in AARS2-L strongly resemble those of CSF1R-related leukoencephalopathy, but there are subtle differences 8,9."
"brain abnormalities, neurodegeneration, and dysosteosclerosis (BANDDOS): autosomal recessive condition also caused by CSF1R mutation"
Expected headings
"Presymptomatic mutation carriers"
"Symptomatic patients"
"extrapyramidal symptoms (e.g. parkinsonism)"
"There are a paucity of disease-modifying therapies available. Haematopoietic stem cell transplantation can be performed, and after an initial period of clinicoradiological worsening, may stabilise the disease 14. However, there is a risk of therapy-associated death 10,14."