MRI characterisation of adult onset alpha-methylacyl-coA racemase deficiency diagnosed by exome sequencing

Table 1 Clinical features in adult α-methylacyl-coA racemace deficiency patients

	Pt 1[9, 11]	Pt 2[9]	Pt 3[7]	Pt 4[13]	Pt 5[12]	Pt 6[10]	Pt 7[8]	Pt 8[14]	Pt A*	Pt B*
Age of onset/Gender	18/M	48/F	36/F	13/F	2^nd decade/ M	3^rd decade/ M	50/M	3^nd decade/M	30/M	33/F
Presentation	developmental delay, episode with blindness	spastic paraparesis	tremor	seizures	seizures	neuroleptic malignant syndrome with rhabdomyolysis	gait ataxia, dysarthria	seizures	arm weakness	seizures
Seizures	Yes	No	Yes	Yes	Yes	Yes	Yes	Yes	Yes	Yes
Encephalopathic episode(s)	Yes	No	Yes	Yes	Yes	Yes	No	Yes	Yes	Yes
Tremor	No	No	upper limbs, head, voice	No	No	No	No	No	No	upper limbs, head
Cerebellar	No	No	dysarthria	No	No	No	gait ataxia, dysarthria	No	No	No
Neuropathy	sensory-motor	sensory-motor	No	mild sensory	mononeu-ropathies	sensory axonal	sensory-motor		sensory-motor	sensory-motor
Retinopathy	RP	N/A	RP	No	RP	degenera-tive retino-pathy	N/A	pigmentary retinopathy	pigmentary retinopathy	pigmentary retinopathy
DM II	N/A	N/A	N/A	N/A	N/A	N/A	N/A	No	Yes	Yes
Additional Features	primary hypogonadism, migraine	migraine	cataract, migraine, hyperreflexia depression	cognitive decline, unsteady gait, depression	primary hypogonadism	schizophrenia,	decline in short-term memory	low s-testosterone	cataract	cataract
AMACR-gene mutation	c.154 T>C [p.Ser52Pro]	c.154 T>C [p.Ser52Pro]	c.154 T>C [p.Ser52Pro]	c.154 T>C [p.Ser52Pro]	c.154 T>C [p.Ser52Pro]	c.559 G>A [p.Gly187Arg]	c.154 T>C [p.Ser52Pro]	N/A	c.367 G>A, [p.Asp123Asn]	c.367 G>A, [p.Asp123Asn]

Summary of reported clinical features in adult α-methylacyl-coA racemace deficiency patients. Pt=patient, RP=retinitis pigmentosa, DM II= type 2 diabetes mellitus.

ISSN: 1750-1172