Hereditary spastic paraplegia: a clinical and epidemiological study of a Brazilian pediatric population

Ortega, Roberta Paiva Magalhães; Rosemberg, Sérgio

doi:10.1590/0004-282X20180153

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Article • Arq. Neuro-Psiquiatr. 77 (1) • Jan 2019 • https://doi.org/10.1590/0004-282X20180153 copy

Hereditary spastic paraplegia: a clinical and epidemiological study of a Brazilian pediatric population

Paraplegia espástica hereditária: estudo clínico e epidemiológico em uma população pediátrica brasileira

Authorship SCIMAGO INSTITUTIONS RANKINGS

ABSTRACT

Aims:

To investigate hereditary spastic paraplegia (HSP) in a pediatric Brazilian sample.

Methods:

Epidemiological, clinical, radiological and laboratory data were analyzed in 35 patients.

Results:

Simple HSP (HSP-S) was detected in 12 patients, and complicated HSP (HSP-C) was detected in 23 patients. The mean age of onset of symptoms was 2.9 years in HSP-S and 1.6 years in HSP-C (p = 0.023). The disease was more severe in HSP-C. There were no differences in sex, ethnic background, or family history between groups. Intellectual disability was the most frequent finding associated with HSP-C. Peripheral axonal neuropathy was found in three patients. In the HSP-C group, MRI was abnormal in 13 patients. The MRI abnormalities included nonspecific white matter lesions, cerebellar atrophy, thinning of the corpus callosum and the “ear of the lynx sign”.

Conclusions:

In children with spastic paraplegia, HSP must be considered whenever similar pathologies, mainly diplegic cerebral palsy, are ruled out.

Keywords:
Spastic paraplegia; hereditary; cerebral palsy; heredodegenerative disorders, nervous system

Variable	Age at onset of symptoms (years)	Age at first appointment (years)	Time to diagnosis after disease onset (years)	Sex	Skin color	Consanguinity	Family history	Inheritance pattern	Progression	Gait
1	5	10	4.6	M	W	–	–	Sporadic? X-linked?	+	I
2	4	5	1.9	F	BR	–	Mother and male cousin	Autosomal dominant	+	I
3	1	2	2	M	BL	+	–	Autosomal recessive	+	I
4	1	4	4.1	M	W	–	–	Sporadic? X-linked?	–	I
5	6	6	0.6	M	BR	–	–	Sporadic? X-linked?	+	I
6	1	5	6.7	M	Y	–	–	Sporadic? X-linked?	–	I
7	10	5	0	F	W	–	Mother	Autosomal dominant	+	I
8	4	11	8.1	F	W	+	Father	Autosomal dominant	+	WS
9	1	1.5	0.6	M	BR	–	Grandfather	Autosomal dominant	–	I
10	2	4	2	F	BL	–	–	Sporadic?	+	I
11	0.8	2	1.8	F	W	–	–	Sporadic?	–	I
12	1	3	3	M	BR	–	–	Sporadic? X-linked?	–	I

Variable	Age at symptom onset (years)	Age at first appointment (years)	Time to diagnosis after disease onset (years)	Sex	Skin color	Consanguinity	Family history	Inheritance pattern	Progression	Gait	ID	EPI	EP	PN	Other
1	1.2	1.4	3	M	W	–	–	Sporadic? X-linked?	–	WS	+	Febrile seizure	–	+	–
2	2	2	12.3	M	BR	–	–	Sporadic? X-linked?	+	I	+	–	–	–	–
3	0	3	2	F	BR	+	–	Autosomal recessive	+	WS	+	+	–	–	–
4	11	15	8	F	BR	–	–	Sporadic?	+	WS	+	–	–	–	–
5	1	9	–	M	BR	–	–	Sporadic? X-linked?	+	WC	+	–	+	–	–
6	0	1.9	5.1	M	W	–	–	Sporadic? X-linked?	+	I	+	–	+	–	–
7	5	6	11.1	F	W	–	Brother	Autosomal recessive	+		+	–	+	–	–
8	0	2	0.7	M	W	+	–	Autosomal recessive	+	WS	–	–	–	–	Hearing impairment
9	0.3	1	2.6	M	BR	–	–	Sporadic? X-linked?	–		+	–	–	–	Startle reflex
10	0.5	2	5.5	F	BR	–	Sister	Autosomal recessive	–	WC	+	–	+	–	–
11	5	10	–	M	BR	–	–	Sporadic? X-linked?	+	WS	+	–	–	–	–
12	1	2.6	14.4	F	W	+	–	Autosomal recessive	+	WC	+	–	–	–	Ataxia + Nystagmus
13	0.2	1	2.7	F	BL	–	–	Sporadic?	–	WC	+	–	–	–	–
14	1	4	3.5	F	W	–	–	Sporadic?	+	WS	–	–	–	+	–
15	1.5	4	3.3	F	BL	–	Brother	Autosomal recessive	+	WS	+	+	–	–	–
16	0	0.6	8.5	F	BR	–	Sister ^* * both patients are sisters;	Autosomal recessive	–	WS	+	–	–	–	Nystagmus + TAVB + upper limb amyotrophy
17	0	0.5	13.5	F	BR	–	Paternal sister	Probably Autosomal dominant	–	WS	+	+	–	–	Skin melanosis
18	4	9	5.5	F	W	–	–	Sporadic?	+	1	–	–	–	+	–
19	0.3	0.8	6.7	F	W	–	Sister ^* * both patients are sisters;	Autosomal recessive	+	WS	+	–	+	–	Nystagmus + upper limb amyotrophy
20	0.4	6	6.9	M	W	–	Maternal uncle +	X-linked?	+	WC	+	single seizure	–	–	Ataxia
20	0.4	6	6.9	M	W	–	Male cousin ^ both patients are cousins.	Autosomal recessive?	+	WC	+	single seizure	–	–	Ataxia
21	1	6	6.1	M	BR	–	Maternal uncle +	X-linked?	+	I	+	–	–	–	Ataxia
21	1	6	6.1	M	BR	–	Male cousin ^ both patients are cousins.	Autosomal recessive?	+	I	+	–	–	–	Ataxia
22	1	1.8	4.4	M	W	–	2 Brothers	x-linked?	+	1	+	+	–	–	Ataxia + Macrocrania
22	1	1.8	4.4	M	W	–	2 Brothers	Autosomal recessive?	+	1	+	+	–	–	Ataxia + Macrocrania
23	2	6	13	M	BR	+	–	Autosomal recessive	+	I	+	–	+	–	–

Variable	Group	Mean	Median	SD	Minimum	Maximum	p-value
Age at onset of symptoms	Overall	2.0	1.0	2.8	0.0	11.0	0.023^* * Mann-Whitney Test;
	Simple	2.9	1.5	3.0	0.8	10.8
	Complicated	1.6	1.0	2.5	0.0	11.0
Age at first appointment	Overall	4.6	3.8	3.7	0.5	15.2	0.187^* * Mann-Whitney Test;
	Simple	5.1	4.9	2.7	1.5	11.9
	Complicated	4.3	2.2	4.2	0.5	15.2
Time between onset of symptoms and HSP diagnosis	Overall	5.2	4.4	3.9	0.0	14.4	0.013^ Student's t test.
	Simple	3.0	2.0	2.5	0.0	8.2
	Complicated	6.4	5.5	4.1	0.8	14.4

Year	Author	Country	N	Simple/Complicated	Sex	Family Recurrence	Consanguinity
2011	Battini et al.¹⁶16. Battini R, Fogli A, Borghetti D, Michelucci A, Perazza S, Baldinotti F et al. Clinical and genetic findings in a series of Italian children with pure hereditary spastic paraplegia. Eur J Neurol. 2011 Jan;18(1):150-7. https://doi.org/10.1111/j.1468-1331.2010.03102.x https://doi.org/10.1111/j.1468-1331.2010...	Italy	14	100% HSP-S	–	7%	–
2013	Koul et al.¹⁷17. Koul R, Al-Murshedi FM, Al-Azri FM, Mani R, Abdelrahim RA, Koul V et al. Clinical spectrum of hereditary spastic paraplegia in children: a study of 74 cases. Sultan Qaboos Univ Med J. 2013 Aug;13(3):371-9. https://doi.org/10.12816/0003258 https://doi.org/10.12816/0003258...	Oman	74	81% HSP-C	56.8% M	98%	91%
2016	Polymeris et al.⁷7. Polymeris AA, Tessa A, Anagnostopoulou K, Rubegni A, Galatolo D, Dinopoulos A et al. A series of Greek children with pure hereditary spastic paraplegia: clinical features and genetic findings. J Neurol. 2016 Aug;263(8):1604-11. https://doi.org/10.1007/s00415-016-8179-z https://doi.org/10.1007/s00415-016-8179-...	Greece	15	100% HSP-S	80% M	33.3%	0%
2016	Kumar et al.¹⁸18. Kumar KR, Wali GM, Kamate M, Wali G, Minoche AE, Puttick C et al. Defining the genetic basis of early onset hereditary spastic paraplegia using whole genome sequencing. Neurogenetics. 2016 Oct;17(4):265-70. https://doi.org/10.1007/s10048-016-0495-z https://doi.org/10.1007/s10048-016-0495-...	India	9	77% HSP-C	–	22.2%	66.6%
2017	Our series	Brazil	35	65.8% HSP-C	51.4% M	37.1%	17.1%

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[1] Correspondence: Roberta Paiva Magalhães Ortega; Rua Cesário Motta Júnior, 112; 01221 020 São Paulo SP, Brasil; E-mail: romagalhaes@hotmail.com