Table 1

Clinical, genetic, and sonographic findings in 18 patients with hyperechogenic lesions of the basal ganglia

Patient, sexAge (y)CAG repeatsClinical scoreCaudate nucleusLenticular nucleusSubstantia nigraThalamus
RightLeftRightLeftRightLeftRightLeft
1, F6341I22000000
2, M5743II22000000
3, F6045II00002200
4, F4644II00001200
5, F4448II32000000
6, M3848III01233300
7, M5145III21000000
8, M5547II00002200
9, M5042I00001100
10, F7542I00110000
11, M4154II00002300
12, F3753II00003100
13, M4046II00001100
14, F3753III00100000
15, M60N.D.III22003200
16, F5144II00001100
17, F4441II00001100
18, M4647III00001100
  • Clinical score I=mild, II=moderate, III=severe (for description of clinical categorisation see Subjects and methods section); echogenicity of hyperechogenic lesions 0=none, 1=mild, 2=moderate, 3=marked.