Table 2.

Other Hereditary Spastic Paraplegias Associated with Thin Corpus Callosum (HSP-TCC) and Mental Impairment of Interest in the Differential Diagnosis of Spastic Paraplegia 11 (SPG11)

Gene(s)Differential Disorder 1MOIClinical Features of Differential Disorder
Overlapping w/SPG11Distinguishing from SPG11
AP4B1 SPG47ARSeizures; white matter abnormalitiesSevere ID; facial dysmorphism; microcephaly; stereotypic laughter w/tongue protrusion
AP4M1 SPG50
AP4E1 SPG51
AP4S1 SPG52
DDHD2 SPG54ARLeukodystrophySevere DD
ERLIN2 SPG18ARAlso assoc w/epilepsy; DDAgenesis of corpus callosum
SPG21 SPG21 (mast syndrome)ARLate-onset ataxia; adult-onset dementia & parkinsonism; polyneuropathyJapanese & Amish origin; akinetic mutism seen in advanced disease; psychiatric disease

GBA2

SPG46ARTCC; cerebellar &cerebral atrophy; DD; cerebellar signs; polyneuropathyCongenital cataract; male infertility (hypogonadism)
TECPR2 SPG49 ARTCC reported occasionallyCentral apnea; severe DD; microcephaly; dysmorphic features; gastroesophageal reflux
ZFYVE26 SPG15 ARDD; optic atrophy; ataxia; central retinal degeneration; polyneuropathyNo clinical features discriminate between SPG11 & SPG15.

AD = autosomal dominant; AR = autosomal recessive; DD = developmental delay; HSP = hereditary spastic paraplegia; ID = intellectual disability; MOI = mode of inheritance; TCC = thin corpus callosum

1.

From: Spastic Paraplegia 11

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