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Table 1 Phenotypic Characteristics in SPG45 patients with NT5C2 mutations

From: NT5C2 novel splicing variant expands the phenotypic spectrum of Spastic Paraplegia (SPG45): case report of a new member of thin corpus callosum SPG-Subgroup

Phenotype Characteristics

Patient II.1

Patient II.3

Families described in Ref.3

Age at onset

7 months

10 months

15 &18 months, infancy, or Unknown

Disease duration

~9 years

~3 years

Range between 2 and 33 years old with a mean of 30 years

Presentation at disease onset

Marked lower limbs spasticity and developmental delay

Developmental delay and marked lower limbs spasticity

Delayed walking

Speech delay

+ (speech started at age 3 years)

+ (speech started at age 2 and half years)

-

Speech

dysarthria

+

+

-

Lower limbs Spasticity

Markedly severe

Markedly Severe

Mild

Back hypotonia

+

+

-

Walking ability

Can walk unsupported with abnormal gait

Can walk unsupported with tip toe walking and abnormal gait

Some can walk unsupported, others walk with support

Gait abnormality

+ (Unsteady gait while walking associated with lumber lordosis, knees flexion, limited foot movements, limited knees and hips extension.

+ (Tip toe walking, in-toing, knee flexion (milder than older brother), lordosis, unsteadiness because of movements limitation.

+ (some cases showed associated knees flexion contracture)

Learning disability

+ (attending special school)

+

+ (except in one family reported with normal cognition)

Cerebellar signs

-

-

-

Ophthalmolo-gical signs

Latent convergent Squint improved following correction glasses, optic disk normal

Hyper-metrope, no squint, normal optic disk

Squint, glaucoma, or primary optic atrophy, each sign was reported once in a patient

Brain MRI

TCC, CC dysgenesis, white matter cystic changes and hyperintensities

Similar findings in addition to frontal cerebral atrophy

TCC & white matter changes in 4 families with available images

Skin changes

Variable size patches of brownish discoloration begin to appear at 6 years old

- (he is yet at the age of 3 years)

-

Skeletal abnormalities

Equinus foot

Equinus foot

Equinus foot in one family

Urine incontinence

+ [he developed the control just lately]

+

Nocturnal enuresis in only one case

Reference

This report

This report

[3]

  1. + : present; − : absent