Table 3. [Genetic Disorders of Interest in the Differential Diagnosis of Subacute Juvenile Sandhoff Disease]. - GeneReviews®

Gene	DiffDx Disorder ¹	Clinical Features of DiffDx Disorder
ASPA	Canavan disease		≤6 mos	Macrocephaly, head lag, hypotonia, seizures	Leukoencephalopathy
CLN3	CLN3 disease (Batten disease; OMIM 204200)		9-18 yrs	Seizures	Progressive visual loss (onset age 4-5 yrs), retinitis pigmentosa, cataracts, myoclonus, parkinsonism, & abnormal ERG
CTSA	Galactosialidosis (OMIM 256540)	+	>12 mos	Seizures	HSM w/coarse features & skeletal disease
GBA1 (GBA)	Gaucher disease type 3		≥12 mos	Seizures	Characteristic looping of saccadic eye movements
GLB1	GM1 gangliosidosis type II (See GLB1 Disorders.)		1-5 yrs	Seizures	Skeletal disease
HEXA	Tay-Sachs disease (See HEXA Disorders.)	+	3-5 yrs	Clinical course nearly identical	See Molecular Pathogenesis for comparison of enzymatic basis of SD & TSD.
SMN1	Spinal muscular atrophy (SMA types II & III)		6 mos to childhood	Progressive hypotonia, fatigue, fasciculations, muscle atrophy	Lack of seizures & brain atrophy; prominent hypotonia

Gene

DiffDx Disorder ¹

Clinical Features of DiffDx Disorder

Cherry-red macula (≤12 mos)

Onset of neurologic regression

Other features / Comment

Not observed in subacute juvenile SD

ASPA

Canavan disease

≤6 mos

Macrocephaly, head lag, hypotonia, seizures

Leukoencephalopathy

CLN3

CLN3 disease (Batten disease; OMIM 204200)

9-18 yrs

Seizures

Progressive visual loss (onset age 4-5 yrs), retinitis pigmentosa, cataracts, myoclonus, parkinsonism, & abnormal ERG

CTSA

Galactosialidosis (OMIM 256540)

>12 mos

Seizures

HSM w/coarse features & skeletal disease

GBA1 (GBA)

Gaucher disease type 3

≥12 mos

Seizures

Characteristic looping of saccadic eye movements

GLB1

GM1 gangliosidosis type II (See GLB1 Disorders.)

1-5 yrs

Seizures

Skeletal disease

HEXA

Tay-Sachs disease (See HEXA Disorders.)

3-5 yrs

Clinical course nearly identical

See Molecular Pathogenesis for comparison of enzymatic basis of SD & TSD.

SMN1

Spinal muscular atrophy (SMA types II & III)

6 mos to childhood

Progressive hypotonia, fatigue, fasciculations, muscle atrophy

Lack of seizures & brain atrophy; prominent hypotonia

From: Sandhoff Disease

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Adam MP, Feldman J, Mirzaa GM, et al., editors.

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