Table 1 Detailed clinical characterization of the individuals included in the study and carrying truncating mutations in UBAP1 (NM_016525.4; NP_057609.2).

From: Identification of UBAP1 mutations in juvenile hereditary spastic paraplegia in the 100,000 Genomes Project

Family/ID	F1-II.1	F2-II.1	F3-II.1	F4-II.1	F5-I.2	F5-II.1	F5-II.2	F5-II.4	F6-I.2	F6-II.1	F6-II.2	F7-II.1	F7-II.2
Variant	c.426_427del; p.(Lys143SerfsTer15)	c.426_427del; p.(Lys143SerfsTer15)	c.535G > T; p.(Glu179Ter)	c.373C > T; p.(Gln125Ter)	c.535G > T; p.(Glu179Ter)	c.535G > T; p.(Glu179Ter)	c.535G > T; p.(Glu179Ter)	c.535G > T; p.(Glu179Ter)	c.535G > T; p.(Glu179Ter)	c.535G > T; p.(Glu179Ter)	c.535G > T; p.(Glu179Ter)	c.535G > T; p.(Glu179Ter)	c.535G > T; p.(Glu179Ter)
CADD score (phred)	29.8	29.8	37	36	37	37	37	37	37	37	37	37	37
Sex	M	M	M	M	F	M	F	F	F	F	M	M	F
Ethnicity	Caucasian	Caucasian	Caucasian	Ashkenazi	Caucasian	Caucasian	Caucasian	Caucasian	Caucasian	Caucasian	Caucasian	Caucasian	Caucasian
Family history	De novo	De novo	Positive	Positive	Positive	Positive	Positive	Positive	Positive	Positive	Positive	Positive	Positive
Age at examination (years)	16	69	33	43	42	23	24	18	n/a	36	n/a	10	11
Age at onset (years)	9	9	18	11	11	10	10	9	n/a	30	11	9	7
Develpoment	Normal. Toe walker	Normal	Normal	Normal	Normal	Normal	Normal	Normal	Normal	Normal	Normal	Normal	Normal
Presenting symptom(s)	Gait difficulty, tiptoe walking	Difficulty running	Mild stumbling	Gait difficulty	Gait difficulty	Gait difficulty	Difficulty running	Gait difficulty, frequent falls	n/a	n/a	n/a	Gait difficulty, falls, foot pain	Unsteady gait, falls, ankle pain
Lower limb power	4+/5 proximal, 4/5 distal	Reduced in a pyramidal distribution	Mild pyramidal weakness	Pyramidal weakness	Reduced	Moderate weakness	Reduced	Normal	n/a	Normal	Normal	Normal	Normal
Lower limb spasticity	Markedly present	Present	Present	Markedly present	Present	Present	Present	Present	n/a	No	Present	Present	Present
Lower limb reflexes	Very brisk, sustained ankle clonus	Brisk, sustained ankle clonus	Increased, sustained ankle clonus	Increased	Increased	Increased, sustained ankle clonus	Increased	Increased	n/a	Very brisk	Very brisk	Increased, mild clonus	Increased, clonus
Plantar reflex	Withdrawal	Extensor	Extensor	Extensor	n/a	Extensor	n/a	Extensor/withdrawal	n/a	Extensor	Extensor	n/a	Extensor
Upper limb power	Normal	Normal	Normal	Normal	Normal	Normal	Normal	Normal	n/a	Normal	Normal	Normal	Normal
Upper limb tone	Normal	Extrapyramidal rigidity	Normal	Normal	Normal	Normal	Normal	Normal	n/a	Normal	Normal	Normal	Normal
Upper limb reflexes	Normal	n/a	Normal	Brisk	Normal	Normal	Normal	Normal	n/a	Normal	Absent	Normal	Normal
Bladder dysfunction	No	Suprapubic catheter	Urinary urgency	No	Urinary urgency	No	No	No	n/a	no	no	no	Urinary urgency
Sensory dysfunction	No	No	No	No	No	No	No	No	n/a	No	distal numbness	No	No
Cognitive impairment	No	No	No	No	No	No	No	No	n/a	No	No	No	No
Ataxia	No	No	No	No	No	No	No	No	n/a	No	No	No	No
Dysarthria	No	No	No	No	No	No	No	No	n/a	No	No	No	No
Additional features	None	Parkinsonism	Occasional cramps	None	Cramps	Learning difficulties, spasms	Learning difficulties	None	n/a	Strabismus	n/a	Severe bilateral valgus foot deformity	None
Progression	Wheelchair use after 2–3 years	Wheelchair dependant from age 55	Walks without aids	Walks without aids	Walks with a single crutch	Walks without aids	Walks without aids	Walks without aids	n/a	Walks without aids	Walks without aids	Walks with crutches, occasionally uses wheelchair	Walks with crutches
Imaging	MRI brain and spine normal	MRI brain: mild generalized cortical subcortical volume loss	MRI brain normal	MRI brain normal	n/a	n/a	n/a	n/a	n/a	MRI brain normal	n/a	n/a	n/a

M male, F female, n/a not available.

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Table 1 Detailed clinical characterization of the individuals included in the study and carrying truncating mutations in UBAP1 (NM_016525.4; NP_057609.2).

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