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. 2016 Mar 2;24(9):1262–1267. doi: 10.1038/ejhg.2016.19

Table 2. Neuroimaging findings of 17 PBS patients with LAMA1 variants affecting function.

  Number of patients (%)
Age at MRI (mean, range) 3.1 years (3 months–14 years)
Presence of cerebellar cysts 17/17 (100%)
Location of cysts  
 Involvement of both cerebellar hemispheres 16/17 (94%)
 Predominant involvement of the anterior vermis 9/17 (53%)
 Predominant involvement of the posterior hemispheres 11/17 (65%)
 Predominant involvement of the superior vermis and hemispheres 16/17 (94%)
Cerebellar dysplasia 17/17 (100%)
Hypoplasia of the inferior vermis 10/17 (59%)
Splayed superior cerebellar peduncles 9/17 (53%)
Enlargement of the fourth ventricle 14/17 (82%)
Square shape of the fourth ventricle 13/17 (77%)
Brainstem structural abnormalities 6/17 (35%)
Supratentorial structural abnormalities 2/17 (12%)