Towards understanding the neuronal ceroid lipofuscinoses.
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Towards understanding the neuronal ceroid lipofuscinoses. / Kohlschütter, Alfried; Schulz, Angela.
In: BRAIN DEV-JPN, Vol. 31, No. 7, 7, 2009, p. 499-502.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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TY - JOUR
T1 - Towards understanding the neuronal ceroid lipofuscinoses.
AU - Kohlschütter, Alfried
AU - Schulz, Angela
PY - 2009
Y1 - 2009
N2 - The neuronal ceroid lipofuscinoses (NCLs) are a group of genetic progressive brain diseases of children and young adults, characterized by a decline of mental and other capacities, epilepsy, and visual loss through retinal degeneration. The common pathology of NCLs is that of a storage disorder with accumulation of an autofluorescent material, ceroid lipofuscin, in combination with the degeneration of neuronal cells. At least 10 genetically distinct NCLs, designated CLN1 to CLN10, are presently known. Several NCLs exhibit a widely variable clinical picture, depending on the severity of the individual mutation. Some NCLs are not particularly rare. With increasing awareness of these disorders and better diagnostic techniques available, the number of recognized patients is rising. This overview briefly summarizes recent developments (or quotes corresponding literature) that are important to understand, diagnose, and manage patients suffering from one of these incurable disorders.
AB - The neuronal ceroid lipofuscinoses (NCLs) are a group of genetic progressive brain diseases of children and young adults, characterized by a decline of mental and other capacities, epilepsy, and visual loss through retinal degeneration. The common pathology of NCLs is that of a storage disorder with accumulation of an autofluorescent material, ceroid lipofuscin, in combination with the degeneration of neuronal cells. At least 10 genetically distinct NCLs, designated CLN1 to CLN10, are presently known. Several NCLs exhibit a widely variable clinical picture, depending on the severity of the individual mutation. Some NCLs are not particularly rare. With increasing awareness of these disorders and better diagnostic techniques available, the number of recognized patients is rising. This overview briefly summarizes recent developments (or quotes corresponding literature) that are important to understand, diagnose, and manage patients suffering from one of these incurable disorders.
M3 - SCORING: Zeitschriftenaufsatz
VL - 31
SP - 499
EP - 502
JO - BRAIN DEV-JPN
JF - BRAIN DEV-JPN
SN - 0387-7604
IS - 7
M1 - 7
ER -
