Table 2.
Genetic | MS | Inflammatory not MS | Double diagnosis MS/genetic | Other | No final diagnosis | Not available | |
---|---|---|---|---|---|---|---|
Multifocal inflammatory (n = 21) | – | 7 (33.3%) | 2 (9.5%) | 2 (9.5%) | – | 9 (42.8%) | 1 (4.8%) |
Susac syndrome | CMT 1A (1) | ||||||
X-linked CMT (1) | |||||||
Multifocal not inflammatory (n = 28) | 9 (32.1%) | 1 (3.6%) | – | 1 (3.6.%) | 2 (7.2%) | 12 (42.8%) | 3 (10.7%) |
Mitochondrial disorder (4) | Mitochondrial disorder | Astrocytoma (1) | |||||
COL4A1-related disorder (1) | Multiple cavernoma (1) | ||||||
CADASIL (2) | |||||||
Hypomelanosis of Ito (1) | |||||||
FOXC1-related disorder (1) | |||||||
Confluent genetic (n = 25) | 11 (44%) | – | – | – | 1 (4%) | 12 (48%) | 1 (4%) |
Alexander disease (1) | Alcohol-related leukoencephalopathy | ||||||
COL4A2-related disorder (1) | |||||||
FOXC1-related disorder (1) | |||||||
PBD (1) | |||||||
SCA15 (1) | |||||||
POL3RA-related leukodystrophy (1) | |||||||
X-linked ALD (1) | |||||||
SPG7 (1) SAMD9L-related disorder (3) |
CMT, Charcot-Marie-Tooth disease; CADASIL, Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; PBD, Peroxisomal Biogenesis Disorder; SCA, spinocerebellar ataxia; ALD, adrenoleukodystrophy.