Table 2.

CSF1R-Related Disorder: Frequency of Select Features by Age of Onset

FeatureEarly Onset (n=19) 1Late Onset (n=122)
(% of affected) 2
Neurologic manifestations 15/17100%
Infantile-onset hypotonia3/11Not reported
Developmental delay7/14Not reported
Speech abnormalities13/1552%
Cognitive impairment12/1494%
Parkinsonism12/15 374%
Pyramidal signs12/1557%
Seizures9/1632%
Dysphagia9/1217%
Optic nerve atrophy2/7<1% 4
Brain imaging abnormalities 19/19100%
White matter abnormalities19/1981%
Calcifications15/1875%
Brain atrophySee footnote 5.64%-92%
Callosal abnormalities12/16 649% 7
Ventriculomegaly13/19100%
Dandy-Walker malformations7/19See footnote 8.
Malformations of cortical development4/10<1% 4
Skeletal abnormalities (clinical and/or radiographic)13/17<1% 4
Dysmorphic features 7/17<1% 4
1.
2.
3.

Rigidity; no data on other parkinsonian features

4.

Reported in a few individuals

5.

Brain atrophy was evidenced both on neuroimaging and pathologic examination [Oosterhof et al 2019, [Sriram et al 2022]. Of note, data to date are limited in young persons, as it is difficult to differentiate atrophy from hypoplasia, especially when neuroimaging has been performed just once.

6.

Agenesis

7.

Atrophy [Guo et al 2019]

8.

Arnold-Chiari malformation, another posterior fossa malformation, has been reported [Guo et al 2019].

From: CSF1R-Related Disorder

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