35 Case Age ABCD1 mutation Disease duration (years) Main symptom(s) Brain MRI Loes score Spinal MRI 1 32 Missense (H667N) 1 Spastic gait, pigmentation Normal 0 Normal 2 44 Nonsense (W595X) 1 Spastic gait, sensory disturbance (leg) Normal 0 Atrophy 3 61 N.E. 4 Spastic gait, muscular weakness (leg), sensory disturbance (leg) Normal 0 Normal 4 30 Missense (S290W) 5 Spastic gait, sensory disturbance (leg), dysuria, dyschezia, impotence P, V 2.5 Normal 5 31 Missense (F540S) 5 Spastic gait V 0.5 Normal 6 24 Missense (A616D) 6 Spastic gait, sensory disturbance (leg), dysuria, impotence Normal 0 Normal 7 31 Frameshift (Y281) 8 Spastic gait, sensory disturbance (leg), dyschezia C 0.5 Normal 8 33 Missense (G277R) 8 Spastic gait, dysuria, dyschezia impotence P 2 Atrophy 9 58 N.E. 18 Spastic gait, dysuria Normal 0 Atrophy 10 58 N.E. 19 Spastic gait, impotence Normal 0 Normal MRI: magnetic resonance image, P: pyramidal system, V: visual pathway, C: cerebellum, N.E.: not examined.

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ABCD1 p.Ala616Asp 19963315:35:514

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33 Case Age ABCD1 mutation Disease duration (years) Main symptom(s) Brain MRI Loes score Spinal MRI 1 32 Missense (H667N) 1 Spastic gait, pigmentation Normal 0 Normal 2 44 Nonsense (W595X) 1 Spastic gait, sensory disturbance (leg) Normal 0 Atrophy 3 61 N.E. 4 Spastic gait, muscular weakness (leg), sensory disturbance (leg) Normal 0 Normal 4 30 Missense (S290W) 5 Spastic gait, sensory disturbance (leg), dysuria, dyschezia, impotence P, V 2.5 Normal 5 31 Missense (F540S) 5 Spastic gait V 0.5 Normal 6 24 Missense (A616D) 6 Spastic gait, sensory disturbance (leg), dysuria, impotence Normal 0 Normal 7 31 Frameshift (Y281) 8 Spastic gait, sensory disturbance (leg), dyschezia C 0.5 Normal 8 33 Missense (G277R) 8 Spastic gait, dysuria, dyschezia impotence P 2 Atrophy 9 58 N.E. 18 Spastic gait, dysuria Normal 0 Atrophy 10 58 N.E. 19 Spastic gait, impotence Normal 0 Normal MRI: magnetic resonance image, P: pyramidal system, V: visual pathway, C: cerebellum, N.E.: not examined.

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ABCD1 p.Ala616Asp 19963315:33:514

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84 Interestingly, the five previously described SNPs (rs17782508, rs2301345, rs4148077, rs4148078, and rs3742801) that are in complete linkage disequilibrium were significantly less frequently represented in the patients with Japanese AMN than in the controls in the Japanese population (p=0.0468), whereas Table 2 Identified ABCD1 mutations: mutations of ABCD1 that result in amino acid substitutions or in-frame deletions Patient number Phenotype Mutation of ABCD1 Effect of mutation of ABCD1 Position of mutation 13 CCALD 709C>T S108L Loop1 14 CCALD 709C>T S108L Loop1 15 CCALD 829A>G N148S TM2 16 CCALD 1026A>G N214D TM3 17 CCALD 1182G>A G266R Between TM4 and EAA-like 18 CCALD 1324T>Ca L313P Between EAA-like and TM5 19 CCALD 1938C>T R518W Walker A 20 CCALD 1939G>A R518Q Walker A 21 CCALD 2017A>G Q544R Between Walker A and Cons 22 CCALD 2017A>G Q544R Between Walker A and Cons 23 CCALD 2065C>T P560L Between Walker A and Cons 24 CCALD 2065C>T P560L Between Walker A and Cons 25 CCALD Del. 2145-2156 Del. HILQ587-590 Between Walker A and Cons 26 AdultCer Del. 1257-1259 Del.E291 EAA-like 27 AdultCer 2005T>C F540S Between Walker A and Cons 28 AdultCer 2358C>T R660W C-terminal to Walker B 29 AdultCer 2385C>A H667N C-terminal to Walker B 30 AMN-Cer 1146A>C T254P TM4 31 AMN 636C>T P84S TM1 32 AMN 709C>T S108L Loop1 33 AMN 1182G>A G266R Between TM4 and EAA-like 34 AMN 1197G>A E271K Between TM4 and EAA-like 35 AMN 1215G>Aa G277R Between TM4 and EAA-like 36 AMN 1255C>G S290W EAA-like 37 AMN 1581C>T R401W Between TM6 and Walker A 38 AMN 2233C>A A616D Cons 39 AMN 2385C>A H667N C-terminal to Walker B 40 Asymptomatic 2211G>A E609K Cons Amino acid residue numbers in ALDP are based on Mosser et al. [1].

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ABCD1 p.Ala616Asp 20661612:84:1549

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