Novel ATL1 mutation in a Chinese family with hereditary spastic paraplegia: A case report and review of literature

Table 1 Clinical characteristics of the patient and affected family members

Characteristics	I:1	II:2	III:1
Gender	Male	Female	Male
Age at onset (yr)	3	8	4
Past history	Lumbar disc herniation	None	None
Clinical presentations	Walking disturbance, mental retardation	Walking disturbance	Walking disturbance, mental retardation, right hearing loss
Physical examination
Muscle strength	Normal	Normal	Lower limbs: grade 5-
Muscle tension	Lower limbs: increase	Lower limbs: increase	Lower limbs: increase
Sensory	Normal	Normal	Normal
Tendon reflex	Bilateral knee reflex1	Bilateral knee reflex1	Bilateral knee reflex2
Babinski signs	Positive	Positive	Positive
Gait	Scissors gait	Scissors gait	Scissors gait
Auxiliary examination
MRI	Normal	Normal	Mild atrophy of the spinal cord
EMG/NCS	NA	Normal	Right tibial nerve’s F wave: Wide
BAEP	NA	NA	Right side hearing was impaired

¹Active;

²Hyperreflexia. MRI: Magnetic resonance imaging; EMG: Electromyography; NCS: Nerve conduction study; BAEP: Brainstem auditory evoked potential; NA: Not available.

Table 2  ATL1 pathogenic mutations in hereditary spastic paraplegia

Exon	Nucleotide changes	Amino acid changes	Genetic model
3	G353A	R118Q	AR
4	T452C	F151S	AD
4	G458C	S153T	AD
4	C460G	Q154E	AD
4	C467T	T156I	AD
4	T470G	L157W	AD
4	T470C	L157S	AD
4	G473C	R158T	AD
4	G481C	A161P	AD
4	A484C	T162P	AD
4	T488C	V163A	AD
4	G493A	A165T	AD
5	C565G	H189D	AD
5	A572G	Q191R	AD
6	A587G	Y196C	AD
7	C649T	R217*	AR
7	G650A	R217Q	AD
7	C715T	R239C	AD
7	G716T	R239L	AD
8	A740C	H247P	AD
8	T749C	L250P	AD
8	C751A	Q251K	AD
8	G757A	V253I	AD
8	A773G	H258R	AD
8	C777A	S259Y	AD
8	C776T	S259Y	AD
8	T776G	S259F	AD
9	T944G	I315S	AD
10	C1006T	Y336H	AD
10	C1025A	P342Q	AD
10	C1030T	P344S	S
10	T1036G	S346A	AD
10	T1040C	M347T	AD
10	G1048T	A350S	AD
11	A1064T	N355I	S
11	C1065A	N355K	S
12	T1123C	C375R	AD
12	C1193A	S398Y	AD
12	C1193T	S398F	S
12	T1202C	L401P	S
12	A1220G	K407R	AD
12	A1222G	M408V	AD
12	T1223C	M408T	AD
12	A1222G	M408T	AD
12	G1226A	G409D	S
12	G1228A	G410R	AD
12	A1237C	F413V	AD
12	T1239C	F413L	AD
12	C1242G	S414R	AD
12	C1243T	R415W	AD
12	A1244G	R415Q	AD
12	C1246T	R416C	AD
12	G1247A	R416H	AD
12	T1308A	N436K	S
12	A1319C	N440T	AD
12	A1376G	Y459C	AD
12	G1406C	G469A	AD
12	G1445T	G482V	AD
12	C1483T	R495W	AD
13	G1556A	S519N	AD
12	1306-1308delAAT	N436del	AD
4	Exon 4 del	140-174del	NA
Intron 1	c.35-3C>T	G13fsX16	AD
12	1462_1463insTG	T490Afs	NA
12	1466-1467insTG	T490fsX508	AD
12	1474insG	A492fsX522	AD
12	1504-1505insG	E502fsX522	AD
12	1520insA	I507fsX522	AD

AR: Autosomal recessive; AD: Autosomal dominant; S: Sporadic; NA: Not available.